Skip to main content
PMC home page
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1988 Nov;25(11):721–731. doi: 10.1136/jmg.25.11.721

Human chromosome 8.

S Wood 1
PMCID: PMC1051574  PMID: 3070042

Abstract

The role of human chromosome 8 in genetic disease together with the current status of the genetic linkage map for this chromosome is reviewed. Both hereditary genetic disease attributed to mutant alleles at gene loci on chromosome 8 and neoplastic disease owing to somatic mutation, particularly chromosomal translocations, are discussed.

Full text

PDF
726

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Astrin K. H., Arredondo-Vega F. X., Desnick R. J., Smith M. Assignment of the gene for cytosolic alanine aminotransferase (AAT1) to human chromosome 8. Ann Hum Genet. 1982 May;46(Pt 2):125–133. doi: 10.1111/j.1469-1809.1982.tb00703.x. [DOI] [PubMed] [Google Scholar]
  2. Avvedimento V. E., Di Lauro R., Monticelli A., Bernardi F., Patracchini P., Calzolari E., Martini G., Varrone S. Mapping of human thyroglobulin gene on the long arm of chromosome 8 by in situ hybridization. Hum Genet. 1985;71(2):163–166. doi: 10.1007/BF00283375. [DOI] [PubMed] [Google Scholar]
  3. Baas F., Bikker H., Geurts van Kessel A., Melsert R., Pearson P. L., de Vijlder J. J., van Ommen G. J. The human thyroglobulin gene: a polymorphic marker localized distal to C-MYC on chromosome 8 band q24. Hum Genet. 1985;69(2):138–143. doi: 10.1007/BF00293284. [DOI] [PubMed] [Google Scholar]
  4. Baas F., Bikker H., van Ommen G. J., de Vijlder J. J. Unusual scarcity of restriction site polymorphism in the human thyroglobulin gene. A linkage study suggesting autosomal dominance of a defective thyroglobulin allele. Hum Genet. 1984;67(3):301–305. doi: 10.1007/BF00291357. [DOI] [PubMed] [Google Scholar]
  5. Baas F., van Ommen G. J., Bikker H., Arnberg A. C., de Vijlder J. J. The human thyroglobulin gene is over 300 kb long and contains introns of up to 64 kb. Nucleic Acids Res. 1986 Jul 11;14(13):5171–5186. doi: 10.1093/nar/14.13.5171. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Bass E. B., Smith S. W., Jr, Stevenson R. E., Rosse W. F. Further evidence for location of the spherocytosis gene on chromosome 8. Ann Intern Med. 1983 Aug;99(2):192–193. doi: 10.7326/0003-4819-99-2-192. [DOI] [PubMed] [Google Scholar]
  7. Beamer W. G., Maltais L. J., DeBaets M. H., Eicher E. M. Inherited congenital goiter in mice. Endocrinology. 1987 Feb;120(2):838–840. doi: 10.1210/endo-120-2-838. [DOI] [PubMed] [Google Scholar]
  8. Benham F. J., Spurr N., Povey S., Brinton B. T., Goodfellow P. N., Solomon E., Harris T. J. Assignment of tissue-type plasminogen activator to chromosome 8 in man and identification of a common restriction length polymorphism within the gene. Mol Biol Med. 1984 Aug;2(4):251–259. [PubMed] [Google Scholar]
  9. Bergé-Lefranc J. L., Cartouzou G., Mattéi M. G., Passage E., Malezet-Desmoulins C., Lissitzky S. Localization of the thyroglobulin gene by in situ hybridization to human chromosomes. Hum Genet. 1985;69(1):28–31. doi: 10.1007/BF00295525. [DOI] [PubMed] [Google Scholar]
  10. Botstein D., White R. L., Skolnick M., Davis R. W. Construction of a genetic linkage map in man using restriction fragment length polymorphisms. Am J Hum Genet. 1980 May;32(3):314–331. [PMC free article] [PubMed] [Google Scholar]
  11. Bowen P., Biederman B., Hoo J. J. The critical segment for the Langer-Giedion syndrome: 8q24.11----q24.12. Ann Genet. 1985;28(4):224–227. [PubMed] [Google Scholar]
  12. Brocas H., Bühler E. M., Simon P., Malik N. J., Vassart G. Integrity of the thyroglobulin locus in tricho-rhino-phalangeal syndrome II. Hum Genet. 1986 Oct;74(2):178–180. doi: 10.1007/BF00282087. [DOI] [PubMed] [Google Scholar]
  13. Brocas H., Szpirer J., Lebo R. V., Levan G., Szpirer C., Cheung M. C., Vassart G. The thyroglobulin gene resides on chromosome 8 in man and on chromosome 7 in the rat. Cytogenet Cell Genet. 1985;39(2):150–153. doi: 10.1159/000132125. [DOI] [PubMed] [Google Scholar]
  14. Browne M. J., Tyrrell A. W., Chapman C. G., Carey J. E., Glover D. M., Grosveld F. G., Dodd I., Robinson J. H. Isolation of a human tissue-type plasminogen-activator genomic DNA clone and its expression in mouse L cells. Gene. 1985;33(3):279–284. doi: 10.1016/0378-1119(85)90235-5. [DOI] [PubMed] [Google Scholar]
  15. Bühler E. M., Bühler U. K., Beutler C., Fessler R. A final word on the tricho-rhino-phalangeal syndromes. Clin Genet. 1987 Apr;31(4):273–275. doi: 10.1111/j.1399-0004.1987.tb02806.x. [DOI] [PubMed] [Google Scholar]
  16. Bühler E. M., Bühler U. K., Christen R. Terminal or interstitial deletion in chromosome 8 long arm in Langer-Giedion syndrome (TRP II syndrome)? Hum Genet. 1983;64(2):163–166. doi: 10.1007/BF00327117. [DOI] [PubMed] [Google Scholar]
  17. Bühler E. M., Bühler U. K., Stalder G. R., Jani L., Jurik L. P. Chromosome deletion and multiple cartilaginous exostoses. Eur J Pediatr. 1980 Mar;133(2):163–166. doi: 10.1007/BF00441586. [DOI] [PubMed] [Google Scholar]
  18. Bühler E. M., Malik N. J. The tricho-rhino-phalangeal syndrome(s): chromosome 8 long arm deletion: is there a shortest region of overlap between reported cases? TRP I and TRP II syndromes: are they separate entities? Am J Med Genet. 1984 Sep;19(1):113–119. doi: 10.1002/ajmg.1320190111. [DOI] [PubMed] [Google Scholar]
  19. Caubet J. F., Mathieu-Mahul D., Bernheim A., Larsen C. J., Berger R. Human proto-oncogene c-mos maps to 8q11. EMBO J. 1985 Sep;4(9):2245–2248. doi: 10.1002/j.1460-2075.1985.tb03921.x. [DOI] [PMC free article] [PubMed] [Google Scholar]
  20. Chan S. J., San Segundo B., McCormick M. B., Steiner D. F. Nucleotide and predicted amino acid sequences of cloned human and mouse preprocathepsin B cDNAs. Proc Natl Acad Sci U S A. 1986 Oct;83(20):7721–7725. doi: 10.1073/pnas.83.20.7721. [DOI] [PMC free article] [PubMed] [Google Scholar]
  21. Chen S. H., Giblett E. R. Polymorphism of soluble glutamic-pyruvic transaminase: a new genetic marker in man. Science. 1971 Jul 9;173(3992):148–149. doi: 10.1126/science.173.3992.148. [DOI] [PubMed] [Google Scholar]
  22. Chilcote R. R., Le Beau M. M., Dampier C., Pergament E., Verlinsky Y., Mohandas N., Frischer H., Rowley J. D. Association of red cell spherocytosis with deletion of the short arm of chromosome 8. Blood. 1987 Jan;69(1):156–159. [PubMed] [Google Scholar]
  23. Chua S. C., Szabo P., Vitek A., Grzeschik K. H., John M., White P. C. Cloning of cDNA encoding steroid 11 beta-hydroxylase (P450c11). Proc Natl Acad Sci U S A. 1987 Oct;84(20):7193–7197. doi: 10.1073/pnas.84.20.7193. [DOI] [PMC free article] [PubMed] [Google Scholar]
  24. Cole M. D. The myc oncogene: its role in transformation and differentiation. Annu Rev Genet. 1986;20:361–384. doi: 10.1146/annurev.ge.20.120186.002045. [DOI] [PubMed] [Google Scholar]
  25. Cook P. J., Noades J. E., Lomas C. G., Buckton K. E., Robson E. B. Exclusion mapping illustrated by the MNSs blood group. Ann Hum Genet. 1980 Jul;44(Pt 1):61–73. doi: 10.1111/j.1469-1809.1980.tb00946.x. [DOI] [PubMed] [Google Scholar]
  26. Cory S. Activation of cellular oncogenes in hemopoietic cells by chromosome translocation. Adv Cancer Res. 1986;47:189–234. doi: 10.1016/s0065-230x(08)60200-6. [DOI] [PubMed] [Google Scholar]
  27. Croce C. M., Thierfelder W., Erikson J., Nishikura K., Finan J., Lenoir G. M., Nowell P. C. Transcriptional activation of an unrearranged and untranslocated c-myc oncogene by translocation of a C lambda locus in Burkitt. Proc Natl Acad Sci U S A. 1983 Nov;80(22):6922–6926. doi: 10.1073/pnas.80.22.6922. [DOI] [PMC free article] [PubMed] [Google Scholar]
  28. Davis M. B., West L. F., Barlow J. H., Butterworth P. H., Lloyd J. C., Edwards Y. H. Regional localization of carbonic anhydrase genes CA1 and CA3 on human chromosome 8. Somat Cell Mol Genet. 1987 Mar;13(2):173–178. doi: 10.1007/BF01534697. [DOI] [PubMed] [Google Scholar]
  29. Degen S. J., Rajput B., Reich E. The human tissue plasminogen activator gene. J Biol Chem. 1986 May 25;261(15):6972–6985. [PubMed] [Google Scholar]
  30. Diaz M. O., Le Beau M. M., Rowley J. D., Drabkin H. A., Patterson D. The role of the c-mos gene in the 8;21 translocation in human acute myeloblastic leukemia. Science. 1985 Aug 23;229(4715):767–769. doi: 10.1126/science.3860954. [DOI] [PubMed] [Google Scholar]
  31. Dietzsch E., Retief A. E., Warnich L., Kotze M. J., Nicholson D. L., Fox M. F., Vermaak L. K., Rich T., Oosthuizen C. J. An anonymous human single copy genomic clone (D8S5) (TL11) on chromosome 8 identifies a moderately frequent RFLP. Nucleic Acids Res. 1986 Aug 26;14(16):6781–6781. doi: 10.1093/nar/14.16.6781. [DOI] [PMC free article] [PubMed] [Google Scholar]
  32. Donis-Keller H., Green P., Helms C., Cartinhour S., Weiffenbach B., Stephens K., Keith T. P., Bowden D. W., Smith D. R., Lander E. S. A genetic linkage map of the human genome. Cell. 1987 Oct 23;51(2):319–337. doi: 10.1016/0092-8674(87)90158-9. [DOI] [PubMed] [Google Scholar]
  33. Drabkin H. A., Diaz M., Bradley C. M., Le Beau M. M., Rowley J. D., Patterson D. Isolation and analysis of the 21q+ chromosome in the acute myelogenous leukemia 8;21 translocation: evidence that c-mos is not translocated. Proc Natl Acad Sci U S A. 1985 Jan;82(2):464–468. doi: 10.1073/pnas.82.2.464. [DOI] [PMC free article] [PubMed] [Google Scholar]
  34. Edlund T., Ny T., Rånby M., Hedén L. O., Palm G., Holmgren E., Josephson S. Isolation of cDNA sequences coding for a part of human tissue plasminogen activator. Proc Natl Acad Sci U S A. 1983 Jan;80(2):349–352. doi: 10.1073/pnas.80.2.349. [DOI] [PMC free article] [PubMed] [Google Scholar]
  35. Edwards Y. H., Barlow J. H., Konialis C. P., Povey S., Butterworth P. H. Assignment of the gene determining human carbonic anhydrase, CAI, to chromosome 8. Ann Hum Genet. 1986 May;50(Pt 2):123–129. doi: 10.1111/j.1469-1809.1986.tb01030.x. [DOI] [PubMed] [Google Scholar]
  36. Edwards Y. H., Lloyd J., Parkar M., Povey S. The gene for human muscle specific carbonic anhydrase (CAIII) is assigned to chromosome 8. Ann Hum Genet. 1986 Jan;50(Pt 1):41–47. doi: 10.1111/j.1469-1809.1986.tb01937.x. [DOI] [PubMed] [Google Scholar]
  37. Eicher E. M., Stern R. H., Womack J. E., Davisson M. T., Roderick T. H., Reynolds S. C. Evolution of mammalian carbonic anhydrase loci by tanden duplication: close linkage of Car-1 and Car-2 to the centromere region of chromosome 3 of the mouse. Biochem Genet. 1976 Aug;14(7-8):651–660. doi: 10.1007/BF00485843. [DOI] [PubMed] [Google Scholar]
  38. Erikson J., Nishikura K., ar-Rushdi A., Finan J., Emanuel B., Lenoir G., Nowell P. C., Croce C. M. Translocation of an immunoglobulin kappa locus to a region 3' of an unrearranged c-myc oncogene enhances c-myc transcription. Proc Natl Acad Sci U S A. 1983 Dec;80(24):7581–7585. doi: 10.1073/pnas.80.24.7581. [DOI] [PMC free article] [PubMed] [Google Scholar]
  39. Ferrell R. E., Hittner H. M., Antoszyk J. H. Linkage of atypical vitelliform macular dystrophy (VMD-1) to the soluble glutamate pyruvate transaminase (GPT1) locus. Am J Hum Genet. 1983 Jan;35(1):78–84. [PMC free article] [PubMed] [Google Scholar]
  40. Fisher D. A., Dussault J. H., Foley T. P., Jr, Klein A. H., LaFranchi S., Larsen P. R., Mitchell M. L., Murphey W. H., Walfish P. G. Screening for congenital hypothyroidism: results of screening one million North American infants. J Pediatr. 1979 May;94(5):700–705. doi: 10.1016/s0022-3476(79)80133-x. [DOI] [PubMed] [Google Scholar]
  41. Fisher K. L., FitzGerald G. A., Lawn R. M. Two polymorphisms in the human lipoprotein lipase (LPL) gene. Nucleic Acids Res. 1987 Sep 25;15(18):7657–7657. doi: 10.1093/nar/15.18.7657. [DOI] [PMC free article] [PubMed] [Google Scholar]
  42. Fisher R., Waller E. K., Grossi G., Thompson D., Tizard R., Schleuning W. D. Isolation and characterization of the human tissue-type plasminogen activator structural gene including its 5' flanking region. J Biol Chem. 1985 Sep 15;260(20):11223–11230. [PubMed] [Google Scholar]
  43. Fong D., Calhoun D. H., Hsieh W. T., Lee B., Wells R. D. Isolation of a cDNA clone for the human lysosomal proteinase cathepsin B. Proc Natl Acad Sci U S A. 1986 May;83(9):2909–2913. doi: 10.1073/pnas.83.9.2909. [DOI] [PMC free article] [PubMed] [Google Scholar]
  44. Fryns J. P., Heremans G., Marien J., Van den Berghe H. Langer-Giedion syndrome and deletion of the long arm of chromosome 8. Confirmation of the critical segment to 8q23. Hum Genet. 1983;64(2):194–195. doi: 10.1007/BF00327126. [DOI] [PubMed] [Google Scholar]
  45. Fryns J. P., Logghe N., Van Eygen M., Van Der Berghe H. Interstitial deletion of the long arm of chromosome 8. Karyotype: 46,XY,del(8)(q21). Hum Genet. 1979 Apr 17;48(1):127–130. doi: 10.1007/BF00273286. [DOI] [PubMed] [Google Scholar]
  46. Fryns J. P., Logghe N., van Eygen M., Van den Berghe H. Langer-Giedion syndrome and deletion of the long arm of chromosome 8. Hum Genet. 1981;58(2):231–232. doi: 10.1007/BF00278720. [DOI] [PubMed] [Google Scholar]
  47. Fryns J. P., Van den Berghe H. 8q24.12 Interstitial deletion in trichorhinophalangeal syndrome type I. Hum Genet. 1986 Oct;74(2):188–189. doi: 10.1007/BF00282091. [DOI] [PubMed] [Google Scholar]
  48. Fukushima Y., Kuroki Y., Izawa T. Two cases of the Langer-Giedion syndrome with the same interstitial deletion of the long arm of chromosome 8: 46, XY or XX, del (8) (q23.3q24.13). Hum Genet. 1983;64(1):90–93. doi: 10.1007/BF00289486. [DOI] [PubMed] [Google Scholar]
  49. Funke H., Klug J., Assmann G. Hind III RFLP in the lipoprotein lipase gene, (LPL). Nucleic Acids Res. 1987 Nov 11;15(21):9102–9102. doi: 10.1093/nar/15.21.9102. [DOI] [PMC free article] [PubMed] [Google Scholar]
  50. Funke H., Reckwerth A., Stapenhorst D., Schulze Beiering M., Jansen M., Assmann G. Bst NI (Eco RII) RFLP in the lipoprotein lipase gene (LPL). Nucleic Acids Res. 1988 Mar 25;16(6):2741–2741. doi: 10.1093/nar/16.6.2741. [DOI] [PMC free article] [PubMed] [Google Scholar]
  51. George D. L., Francke U. Gene dose effect: regional mapping of human glutathione reductase on chromosome 8. Cytogenet Cell Genet. 1976;17(5):282–286. doi: 10.1159/000130723. [DOI] [PubMed] [Google Scholar]
  52. Goldblatt J., Smart R. D. Tricho-rhino-phalangeal syndrome without exostoses, wih an interstitial deletion of 8q23. Clin Genet. 1986 May;29(5):434–438. doi: 10.1111/j.1399-0004.1986.tb00517.x. [DOI] [PubMed] [Google Scholar]
  53. Goodman S. R., Shiffer K. A., Casoria L. A., Eyster M. E. Identification of the molecular defect in the erythrocyte membrane skeleton of some kindreds with hereditary spherocytosis. Blood. 1982 Sep;60(3):772–784. [PubMed] [Google Scholar]
  54. Gorlin R. J., Cervenka J., Bloom B. A., Langer L. O., Jr No chromosome deletion found on prometaphase banding in two cases of Langer-Giedion syndrome. Am J Med Genet. 1982 Nov;13(3):345–347. doi: 10.1002/ajmg.1320130322. [DOI] [PubMed] [Google Scholar]
  55. Graham M., Adams J. M. Chromosome 8 breakpoint far 3' of the c-myc oncogene in a Burkitt's lymphoma 2;8 variant translocation is equivalent to the murine pvt-1 locus. EMBO J. 1986 Nov;5(11):2845–2851. doi: 10.1002/j.1460-2075.1986.tb04578.x. [DOI] [PMC free article] [PubMed] [Google Scholar]
  56. Guibaud P., Larbre F., Freycon M. T., Genoud J. Ostéopétrose et acidose rénale tubulaire. Deux cas de cette association dans une fratrie. Arch Fr Pediatr. 1972 Mar;29(3):269–286. [PubMed] [Google Scholar]
  57. Gutensohn W., Rodewald A., Haas B., Schulz P., Cleve H. Refined mapping of the gene for glutathione reductase on human chromosome 8. Hum Genet. 1978 Aug 31;43(2):221–224. doi: 10.1007/BF00293599. [DOI] [PubMed] [Google Scholar]
  58. Hall J. G., Wilson R. D., Kalousek D., Beauchamp R. Familial multiple exostoses--no chromosome 8 deletion observed. Am J Med Genet. 1985 Nov;22(3):639–640. doi: 10.1002/ajmg.1320220328. [DOI] [PubMed] [Google Scholar]
  59. Haluska F. G., Huebner K., Croce C. M. p380-8A 1.8 SaSs, a single copy clone 5' of c-myc at 8q24 which recognizes an SstI polymorphism. Nucleic Acids Res. 1987 Jan 26;15(2):865–865. doi: 10.1093/nar/15.2.865. [DOI] [PMC free article] [PubMed] [Google Scholar]
  60. Haluska F. G., Tsujimoto Y., Croce C. M. Oncogene activation by chromosome translocation in human malignancy. Annu Rev Genet. 1987;21:321–345. doi: 10.1146/annurev.ge.21.120187.001541. [DOI] [PubMed] [Google Scholar]
  61. Heinzmann C., Ladias J., Antonarakis S., Kirchgessner T., Schotz M., Lusis A. J. RFLP for the human lipoprotein lipase (LPL) gene: HindIII. Nucleic Acids Res. 1987 Aug 25;15(16):6763–6763. doi: 10.1093/nar/15.16.6763. [DOI] [PMC free article] [PubMed] [Google Scholar]
  62. Hollstein M., Montesano R., Yamasaki H. Presence of an EcoRI RFLP of the c-mos locus in normal and tumor tissue of esophageal cancer patients. Nucleic Acids Res. 1986 Nov 11;14(21):8695–8695. doi: 10.1093/nar/14.21.8695. [DOI] [PMC free article] [PubMed] [Google Scholar]
  63. Hoo J. J., Lorenz R., Fischer A., Fuhrmann W. Tiny interstitial duplication of proximal 7q in association with a maternal paracentric inversion. Hum Genet. 1982;62(2):113–116. doi: 10.1007/BF00282296. [DOI] [PubMed] [Google Scholar]
  64. Hurst J., Flavell D., Julien J. P., Meijer D., Mushynski W., Grosveld F. The human neurofilament gene (NEFL) is located on the short arm of chromosome 8. Cytogenet Cell Genet. 1987;45(1):30–32. doi: 10.1159/000132421. [DOI] [PubMed] [Google Scholar]
  65. Johansson L., Hedner U., Nilsson I. M. A family with thromboembolic disease associated with deficient fibrinolytic activity in vessel wall. Acta Med Scand. 1978;203(6):477–480. doi: 10.1111/j.0954-6820.1978.tb14911.x. [DOI] [PubMed] [Google Scholar]
  66. Jørgensen M., Mortensen J. Z., Madsen A. G., Thorsen S., Jacobsen B. A family with reduced plasminogen activator activity in blood associated with recurrent venous thrombosis. Scand J Haematol. 1982 Sep;29(3):217–223. doi: 10.1111/j.1600-0609.1982.tb00586.x. [DOI] [PubMed] [Google Scholar]
  67. Kielty C. M., Povey S., Hopkinson D. A. Regulation of expression of liver-specific enzymes. II. Activation and chromosomal localization of soluble glutamate-pyruvate transaminase. Ann Hum Genet. 1982 May;46(Pt 2):135–143. doi: 10.1111/j.1469-1809.1982.tb00704.x. [DOI] [PubMed] [Google Scholar]
  68. Kimberling W. J., Fulbeck T., Dixon L., Lubs H. A. Localization of spherocytosis to chromosome 8 or 12 and report of a family with spherocytosis and a reciprocal translocation. Am J Hum Genet. 1975 Sep;27(5):586–594. [PMC free article] [PubMed] [Google Scholar]
  69. Kimberling W. J., Taylor R. A., Chapman R. G., Lubs H. A. Linkage and gene localization of hereditary spherocytosis (HS). Blood. 1978 Nov;52(5):859–867. [PubMed] [Google Scholar]
  70. Kirchgessner T. G., Svenson K. L., Lusis A. J., Schotz M. C. The sequence of cDNA encoding lipoprotein lipase. A member of a lipase gene family. J Biol Chem. 1987 Jun 25;262(18):8463–8466. [PubMed] [Google Scholar]
  71. Kitatani M., Chiyo H., Ozaki M., Shike S., Miwa S. Localization of the spherocytosis gene to chromosome segment 8p11.22----8p21. Hum Genet. 1988 Jan;78(1):94–95. doi: 10.1007/BF00291244. [DOI] [PubMed] [Google Scholar]
  72. Kok K., van Dijk J. E., Sterk A., Baas F., van Ommen G. J., de Vijlder J. J. Autosomal recessive inheritance of goiter in Dutch goats. J Hered. 1987 Sep-Oct;78(5):298–300. doi: 10.1093/oxfordjournals.jhered.a110391. [DOI] [PubMed] [Google Scholar]
  73. Landegent J. E., Jansen in de Wal N., Dirks R. W., Baao F., van der Ploeg M. Use of whole cosmid cloned genomic sequences for chromosomal localization by non-radioactive in situ hybridization. Hum Genet. 1987 Dec;77(4):366–370. doi: 10.1007/BF00291428. [DOI] [PubMed] [Google Scholar]
  74. Landegent J. E., Jansen in de Wal N., van Ommen G. J., Baas F., de Vijlder J. J., van Duijn P., Van der Ploeg M. Chromosomal localization of a unique gene by non-autoradiographic in situ hybridization. Nature. 1985 Sep 12;317(6033):175–177. doi: 10.1038/317175a0. [DOI] [PubMed] [Google Scholar]
  75. Langer L. O., Jr, Krassikoff N., Laxova R., Scheer-Williams M., Lutter L. D., Gorlin R. J., Jennings C. G., Day D. W. The tricho-rhino-phalangeal syndrome with exostoses (or Langer-Giedion syndrome): four additional patients without mental retardation and review of the literature. Am J Med Genet. 1984 Sep;19(1):81–112. doi: 10.1002/ajmg.1320190110. [DOI] [PubMed] [Google Scholar]
  76. Lathrop G. M., Lalouel J. M. Efficient computations in multilocus linkage analysis. Am J Hum Genet. 1988 Mar;42(3):498–505. [PMC free article] [PubMed] [Google Scholar]
  77. Lathrop G. M., Lalouel J. M., Julier C., Ott J. Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci U S A. 1984 Jun;81(11):3443–3446. doi: 10.1073/pnas.81.11.3443. [DOI] [PMC free article] [PubMed] [Google Scholar]
  78. Lee B. L., Venta P. J., Tashian R. E. DNA polymorphism in the 5' flanking region of the human carbonic anhydrase II gene on chromosome 8. Hum Genet. 1985;69(4):337–339. doi: 10.1007/BF00291652. [DOI] [PubMed] [Google Scholar]
  79. Li S. R., Oka K., Galton D., Stocks J. Pvu-II RFLP at the human lipoprotein lipase (LPL) gene locus. Nucleic Acids Res. 1988 Mar 25;16(5):2358–2358. doi: 10.1093/nar/16.5.2358. [DOI] [PMC free article] [PubMed] [Google Scholar]
  80. Lidereau R., Mathieu-Mahul D., Theillet C., Renaud M., Mauchauffé M., Gest J., Larsen C. J. Presence of an allelic EcoRI restriction fragment of the c-mos locus in leukocyte and tumor cell DNAs of breast cancer patients. Proc Natl Acad Sci U S A. 1985 Oct;82(20):7068–7070. doi: 10.1073/pnas.82.20.7068. [DOI] [PMC free article] [PubMed] [Google Scholar]
  81. Lin C. C., Bowen P., Hoo J. J. Familial paracentric inversions inv(2)(q31q35) and inv(8)(q22.3q24.13) ascertained through reproductive abnormalities. Hum Genet. 1987 Jan;75(1):84–87. doi: 10.1007/BF00273848. [DOI] [PubMed] [Google Scholar]
  82. Litt M., Buroker N. E., Kondoleon S., Douglass J., Liston D., Sheehy R., Magenis R. E. Chromosomal localization of the human proenkephalin and prodynorphin genes. Am J Hum Genet. 1988 Feb;42(2):327–334. [PMC free article] [PubMed] [Google Scholar]
  83. Lloyd J., McMillan S., Hopkinson D., Edwards Y. H. Nucleotide sequence and derived amino acid sequence of a cDNA encoding human muscle carbonic anhydrase. Gene. 1986;41(2-3):233–239. doi: 10.1016/0378-1119(86)90103-4. [DOI] [PubMed] [Google Scholar]
  84. Loos H., Roos D., Weening R., Houwerzijl J. Familial deficiency of glutathione reductase in human blood cells. Blood. 1976 Jul;48(1):53–62. [PubMed] [Google Scholar]
  85. MORTON N. E., MACKINNEY A. A., KOSOWER N., SCHILLING R. F., GRAY M. P. Genetics of spherocytosis. Am J Hum Genet. 1962 Jun;14:170–184. [PMC free article] [PubMed] [Google Scholar]
  86. Magenis R. E., Reiss J., Bigley R., Chamberlin J., Lovrien E. Exclusion of glutathione reductase from 8pter leads to 8p22 and localization to 8p21. Cytogenet Cell Genet. 1978;22(1-6):446–448. doi: 10.1159/000130993. [DOI] [PubMed] [Google Scholar]
  87. Malthiéry Y., Lissitzky S. Primary structure of human thyroglobulin deduced from the sequence of its 8448-base complementary DNA. Eur J Biochem. 1987 Jun 15;165(3):491–498. doi: 10.1111/j.1432-1033.1987.tb11466.x. [DOI] [PubMed] [Google Scholar]
  88. Manolov G., Manolova Y., Klein G., Lenoir G., Levan A. Alternative involvement of two cytogenetically distinguishable breakpoints on chromosome 8 in Burkitt's lymphoma associated translocations. Cancer Genet Cytogenet. 1986 Feb 1;20(1-2):95–99. doi: 10.1016/0165-4608(86)90111-1. [DOI] [PubMed] [Google Scholar]
  89. McBride O. W., Zmudzka B. Z., Wilson S. H. Chromosomal location of the human gene for DNA polymerase beta. Proc Natl Acad Sci U S A. 1987 Jan;84(2):503–507. doi: 10.1073/pnas.84.2.503. [DOI] [PMC free article] [PubMed] [Google Scholar]
  90. Mengle-Gaw L., Rabbitts T. H. A human chromosome 8 region with abnormalities in B cell, HTLV-I+ T cell and c-myc amplified tumours. EMBO J. 1987 Jul;6(7):1959–1965. doi: 10.1002/j.1460-2075.1987.tb02458.x. [DOI] [PMC free article] [PubMed] [Google Scholar]
  91. Montgomery J. C., Venta P. J., Tashian R. E., Hewett-Emmett D. Nucleotide sequence of human liver carbonic anhydrase II cDNA. Nucleic Acids Res. 1987 Jun 11;15(11):4687–4687. doi: 10.1093/nar/15.11.4687. [DOI] [PMC free article] [PubMed] [Google Scholar]
  92. Murachi S., Nogami H., Oki T., Ogino T. Familial tricho-rhino-phalangeal syndrome Type II. Clin Genet. 1981 Mar;19(3):149–155. doi: 10.1111/j.1399-0004.1981.tb00688.x. [DOI] [PubMed] [Google Scholar]
  93. Murakami H., Marelich G. P., Grubb J. H., Kyle J. W., Sly W. S. Cloning, expression, and sequence homologies of cDNA for human carbonic anhydrase II. Genomics. 1987 Oct;1(2):159–166. doi: 10.1016/0888-7543(87)90008-5. [DOI] [PubMed] [Google Scholar]
  94. Nakai H., Byers M. G., Venta P. J., Tashian R. E., Shows T. B. The gene for human carbonic anhydrase II (CA2) is located at chromosome 8q22. Cytogenet Cell Genet. 1987;44(4):234–235. doi: 10.1159/000132378. [DOI] [PubMed] [Google Scholar]
  95. Neel B. G., Jhanwar S. C., Chaganti R. S., Hayward W. S. Two human c-onc genes are located on the long arm of chromosome 8. Proc Natl Acad Sci U S A. 1982 Dec;79(24):7842–7846. doi: 10.1073/pnas.79.24.7842. [DOI] [PMC free article] [PubMed] [Google Scholar]
  96. Nichols E. A., Ruddle F. H. Polymorphism and linkage of glutathione reductase in Mus musculus. Biochem Genet. 1975 Jun;13(5-6):323–329. doi: 10.1007/BF00485817. [DOI] [PubMed] [Google Scholar]
  97. Ny T., Elgh F., Lund B. The structure of the human tissue-type plasminogen activator gene: correlation of intron and exon structures to functional and structural domains. Proc Natl Acad Sci U S A. 1984 Sep;81(17):5355–5359. doi: 10.1073/pnas.81.17.5355. [DOI] [PMC free article] [PubMed] [Google Scholar]
  98. Ohlsson A., Stark G., Sakati N. Marble brain disease: recessive osteopetrosis, renal tubular acidosis and cerebral calcification in three Saudi Arabian families. Dev Med Child Neurol. 1980 Feb;22(1):72–84. doi: 10.1111/j.1469-8749.1980.tb04307.x. [DOI] [PubMed] [Google Scholar]
  99. Okuno T., Inoue A., Asakura T., Nakao S. Langer-Giedion syndrome with del 8 (q24.13-q24.22). Clin Genet. 1987 Jul;32(1):40–45. doi: 10.1111/j.1399-0004.1987.tb03321.x. [DOI] [PubMed] [Google Scholar]
  100. Olaisen B., Gedde-Dahl T., Jr GPT--epidermolysis bullosa simplex (EBS Ogna) linkage in man. Hum Hered. 1973;23(3):189–196. doi: 10.1159/000152573. [DOI] [PubMed] [Google Scholar]
  101. Palek J., Lux S. E. Red cell membrane skeletal defects in hereditary and acquired hemolytic anemias. Semin Hematol. 1983 Jul;20(3):189–224. [PubMed] [Google Scholar]
  102. Pearson P. L., Kidd K. K., Willard H. F. Report of the committee on human gene mapping by recombinant DNA techniques. Cytogenet Cell Genet. 1987;46(1-4):390–566. doi: 10.1159/000132487. [DOI] [PubMed] [Google Scholar]
  103. Pennica D., Holmes W. E., Kohr W. J., Harkins R. N., Vehar G. A., Ward C. A., Bennett W. F., Yelverton E., Seeburg P. H., Heyneker H. L. Cloning and expression of human tissue-type plasminogen activator cDNA in E. coli. Nature. 1983 Jan 20;301(5897):214–221. doi: 10.1038/301214a0. [DOI] [PubMed] [Google Scholar]
  104. Pfeiffer R. A. Langer-Giedion syndrome and additional congenital malformations with interstitial deletion of the long arm of chromosome 8 46, XY, del 8 (q 13-22). Clin Genet. 1980 Aug;18(2):142–146. doi: 10.1111/j.1399-0004.1980.tb01025.x. [DOI] [PubMed] [Google Scholar]
  105. Prchal J. T., Morley B. J., Yoon S. H., Coetzer T. L., Palek J., Conboy J. G., Kan Y. W. Isolation and characterization of cDNA clones for human erythrocyte beta-spectrin. Proc Natl Acad Sci U S A. 1987 Nov;84(21):7468–7472. doi: 10.1073/pnas.84.21.7468. [DOI] [PMC free article] [PubMed] [Google Scholar]
  106. Rac R., Hill G. N., Pain R. W., Wulhearn C. J. Congenital goitre in Merino sheep due to an inherited defect in the biosynthesis of thyroid hormone. Res Vet Sci. 1968 May;9(3):209–223. [PubMed] [Google Scholar]
  107. Rajput B., Degen S. F., Reich E., Waller E. K., Axelrod J., Eddy R. L., Shows T. B. Chromosomal locations of human tissue plasminogen activator and urokinase genes. Science. 1985 Nov 8;230(4726):672–674. doi: 10.1126/science.3840278. [DOI] [PubMed] [Google Scholar]
  108. Revoltella R. P., Park M., Fruscalzo A. Identification in several human myeloid leukemias or cell lines of a DNA rearrangement next to the c-mos 3'-end. FEBS Lett. 1985 Sep 9;189(1):97–101. doi: 10.1016/0014-5793(85)80850-4. [DOI] [PubMed] [Google Scholar]
  109. Ricketts M. H., Pohl V., de Martynoff G., Boyd C. D., Bester A. J., Van Jaarsveld P. P., Vassart G. Defective splicing of thyroglobulin gene transcripts in the congenital goitre of the Afrikander cattle. EMBO J. 1985 Mar;4(3):731–737. doi: 10.1002/j.1460-2075.1985.tb03690.x. [DOI] [PMC free article] [PubMed] [Google Scholar]
  110. Ricketts M. H., Simons M. J., Parma J., Mercken L., Dong Q., Vassart G. A nonsense mutation causes hereditary goitre in the Afrikander cattle and unmasks alternative splicing of thyroglobulin transcripts. Proc Natl Acad Sci U S A. 1987 May;84(10):3181–3184. doi: 10.1073/pnas.84.10.3181. [DOI] [PMC free article] [PubMed] [Google Scholar]
  111. Sakaguchi A. Y., Lalley P. A., Naylor S. L. Human and mouse cellular myc protooncogenes reside on chromosomes involved in numerical and structural aberrations in cancer. Somatic Cell Genet. 1983 May;9(3):391–405. doi: 10.1007/BF01539146. [DOI] [PubMed] [Google Scholar]
  112. Schwartz S., Beisel J. H., Panny S. R., Cohen M. M. A complex rearrangement, including a deleted 8q, in a case of Langer-Giedion syndrome. Clin Genet. 1985 Feb;27(2):175–182. doi: 10.1111/j.1399-0004.1985.tb00207.x. [DOI] [PubMed] [Google Scholar]
  113. Shabtai F., Sandowski U., Nissimov R., Klar D., Halbrecht I. Familial syndrome with some features of the Langer-Giedion syndrome, and paracentric inversion of chromosome 8, inv 8 (q11.23----q21.1). Clin Genet. 1985 Jun;27(6):600–605. doi: 10.1111/j.1399-0004.1985.tb02045.x. [DOI] [PubMed] [Google Scholar]
  114. Shaw D. J., Brook J. D., Meredith A. L., Harley H. G., Sarfarazi M., Harper P. S. Gene mapping and chromosome 19. J Med Genet. 1986 Feb;23(1):2–10. doi: 10.1136/jmg.23.1.2. [DOI] [PMC free article] [PubMed] [Google Scholar]
  115. Simon P., Brocas H., Rodesch C., Vassart G. RFLP detected at the 8924 locus by a thyroglobulin cDNA probe. Nucleic Acids Res. 1987 Jan 12;15(1):373–373. doi: 10.1093/nar/15.1.373. [DOI] [PMC free article] [PubMed] [Google Scholar]
  116. Sly W. S., Hewett-Emmett D., Whyte M. P., Yu Y. S., Tashian R. E. Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification. Proc Natl Acad Sci U S A. 1983 May;80(9):2752–2756. doi: 10.1073/pnas.80.9.2752. [DOI] [PMC free article] [PubMed] [Google Scholar]
  117. Sly W. S., Whyte M. P., Sundaram V., Tashian R. E., Hewett-Emmett D., Guibaud P., Vainsel M., Baluarte H. J., Gruskin A., Al-Mosawi M. Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification. N Engl J Med. 1985 Jul 18;313(3):139–145. doi: 10.1056/NEJM198507183130302. [DOI] [PubMed] [Google Scholar]
  118. Sparkes R. S., Muller H., Klisak I. Retinoblastoma with 13q- chromosomal deletion associated with maternal paracentric inversion of 13q. Science. 1979 Mar 9;203(4384):1027–1029. doi: 10.1126/science.424728. [DOI] [PubMed] [Google Scholar]
  119. Sparkes R. S., Zollman S., Klisak I., Kirchgessner T. G., Komaromy M. C., Mohandas T., Schotz M. C., Lusis A. J. Human genes involved in lipolysis of plasma lipoproteins: mapping of loci for lipoprotein lipase to 8p22 and hepatic lipase to 15q21. Genomics. 1987 Oct;1(2):138–144. doi: 10.1016/0888-7543(87)90005-x. [DOI] [PubMed] [Google Scholar]
  120. Spence M. A., Tsui L. C. Report of the committee on the genetic constitution of chromosomes 7, 8 and 9. Cytogenet Cell Genet. 1987;46(1-4):170–187. doi: 10.1159/000132476. [DOI] [PubMed] [Google Scholar]
  121. Stead N. W., Bauer K. A., Kinney T. R., Lewis J. G., Campbell E. E., Shifman M. A., Rosenberg R. D., Pizzo S. V. Venous thrombosis in a family with defective release of vascular plasminogen activator and elevated plasma factor VIII/von Willebrand's factor. Am J Med. 1983 Jan;74(1):33–39. doi: 10.1016/0002-9343(83)91115-4. [DOI] [PubMed] [Google Scholar]
  122. Taub R., Kirsch I., Morton C., Lenoir G., Swan D., Tronick S., Aaronson S., Leder P. Translocation of the c-myc gene into the immunoglobulin heavy chain locus in human Burkitt lymphoma and murine plasmacytoma cells. Proc Natl Acad Sci U S A. 1982 Dec;79(24):7837–7841. doi: 10.1073/pnas.79.24.7837. [DOI] [PMC free article] [PubMed] [Google Scholar]
  123. Taylor B. A., Rowe L. The congenital goiter mutation is linked to the thyroglobulin gene in the mouse. Proc Natl Acad Sci U S A. 1987 Apr;84(7):1986–1990. doi: 10.1073/pnas.84.7.1986. [DOI] [PMC free article] [PubMed] [Google Scholar]
  124. Tripputi P., Blasi F., Ny T., Emanuel B. S., Letosfsky J., Croce C. M. Tissue-type plasminogen activator gene is on chromosome 8. Cytogenet Cell Genet. 1986;42(1-2):24–28. doi: 10.1159/000132245. [DOI] [PubMed] [Google Scholar]
  125. Turleau C., Chavin-Colin F., de Grouchy J., Maroteaux P., Rivera H. Langer-Giedion syndrome with and without del 8q. assignment of critical segment to 8q23. Hum Genet. 1982;62(3):183–187. doi: 10.1007/BF00333515. [DOI] [PubMed] [Google Scholar]
  126. Vainsel M., Fondu P., Cadranel S., Rocmans C., Gepts W. Osteopetrosis associated with proximal and distal tubular acidosis. Acta Paediatr Scand. 1972 Jul;61(4):429–434. doi: 10.1111/j.1651-2227.1972.tb15859.x. [DOI] [PubMed] [Google Scholar]
  127. Van Ommen G. B. Merging autosomal dominance and recessivity. Am J Hum Genet. 1987 Oct;41(4):689–691. [PMC free article] [PubMed] [Google Scholar]
  128. Venta P. J., Shows T. B., Curtis P. J., Tashian R. E. Polymorphic gene for human carbonic anhydrase II: a molecular disease marker located on chromosome 8. Proc Natl Acad Sci U S A. 1983 Jul;80(14):4437–4440. doi: 10.1073/pnas.80.14.4437. [DOI] [PMC free article] [PubMed] [Google Scholar]
  129. Verheijen J. H., Visse R., Wijnen J. T., Chang G. T., Kluft C., Meera Khan P. Assignment of the human tissue-type plasminogen activator gene (PLAT) to chromosome 8. Hum Genet. 1986 Feb;72(2):153–156. doi: 10.1007/BF00283935. [DOI] [PubMed] [Google Scholar]
  130. Wade R., Gunning P., Eddy R., Shows T., Kedes L. Nucleotide sequence, tissue-specific expression, and chromosome location of human carbonic anhydrase III: the human CAIII gene is located on the same chromosome as the closely linked CAI and CAII genes. Proc Natl Acad Sci U S A. 1986 Dec;83(24):9571–9575. doi: 10.1073/pnas.83.24.9571. [DOI] [PMC free article] [PubMed] [Google Scholar]
  131. Watson R., Oskarsson M., Vande Woude G. F. Human DNA sequence homologous to the transforming gene (mos) of Moloney murine sarcoma virus. Proc Natl Acad Sci U S A. 1982 Jul;79(13):4078–4082. doi: 10.1073/pnas.79.13.4078. [DOI] [PMC free article] [PubMed] [Google Scholar]
  132. Webb E., Adams J. M., Cory S. Variant (6 ; 15) translocation in a murine plasmacytoma occurs near an immunoglobulin kappa gene but far from the myc oncogene. Nature. 1984 Dec 20;312(5996):777–779. doi: 10.1038/312777a0. [DOI] [PubMed] [Google Scholar]
  133. White P. C., New M. I., Dupont B. Congenital adrenal hyperplasia (2). N Engl J Med. 1987 Jun 18;316(25):1580–1586. doi: 10.1056/NEJM198706183162506. [DOI] [PubMed] [Google Scholar]
  134. Whyte M. P., Murphy W. A., Fallon M. D., Sly W. S., Teitelbaum S. L., McAlister W. H., Avioli L. V. Osteopetrosis, renal tubular acidosis and basal ganglia calcification in three sisters. Am J Med. 1980 Jul;69(1):64–74. doi: 10.1016/0002-9343(80)90501-x. [DOI] [PubMed] [Google Scholar]
  135. Wilson D. E., del Pizzo R., Carritt B., Povey S. Assignment of the human gene for beta-glycerol phosphatase to chromosome 8. Ann Hum Genet. 1986 Jul;50(Pt 3):217–221. doi: 10.1111/j.1469-1809.1986.tb01041.x. [DOI] [PubMed] [Google Scholar]
  136. Wilson W. G., Wyandt H. E., Shah H. Interstitial deletion of 8q. Occurrence in a patient with multiple exostoses and unusual facies. Am J Dis Child. 1983 May;137(5):444–448. [PubMed] [Google Scholar]
  137. Wion K. L., Kirchgessner T. G., Lusis A. J., Schotz M. C., Lawn R. M. Human lipoprotein lipase complementary DNA sequence. Science. 1987 Mar 27;235(4796):1638–1641. doi: 10.1126/science.3823907. [DOI] [PubMed] [Google Scholar]
  138. Wolfe L. C., John K. M., Falcone J. C., Byrne A. M., Lux S. E. A genetic defect in the binding of protein 4.1 to spectrin in a kindred with hereditary spherocytosis. N Engl J Med. 1982 Nov 25;307(22):1367–1374. doi: 10.1056/NEJM198211253072203. [DOI] [PubMed] [Google Scholar]
  139. Wood S., Poon R., Riddell D. C., Royle N. J., Hamerton J. L. A DNA marker for human chromosome 8 that detects alleles of differing sizes. Cytogenet Cell Genet. 1986;42(3):113–118. doi: 10.1159/000132262. [DOI] [PubMed] [Google Scholar]
  140. Yamanashi Y., Fukushige S., Semba K., Sukegawa J., Miyajima N., Matsubara K., Yamamoto T., Toyoshima K. The yes-related cellular gene lyn encodes a possible tyrosine kinase similar to p56lck. Mol Cell Biol. 1987 Jan;7(1):237–243. doi: 10.1128/mcb.7.1.237. [DOI] [PMC free article] [PubMed] [Google Scholar]
  141. Yang-Feng T. L., Opdenakker G., Volckaert G., Francke U. Human tissue-type plasminogen activator gene located near chromosomal breakpoint in myeloproliferative disorder. Am J Hum Genet. 1986 Jul;39(1):79–87. [PMC free article] [PubMed] [Google Scholar]
  142. Yang-Feng T. L., Seeburg P. H., Francke U. Human luteinizing hormone-releasing hormone gene (LHRH) is located on short arm of chromosome 8 (region 8p11.2----p21). Somat Cell Mol Genet. 1986 Jan;12(1):95–100. doi: 10.1007/BF01560732. [DOI] [PubMed] [Google Scholar]
  143. Zabel B. U., Baumann W. A. Langer-Giedion syndrome with interstitial 8q-deletion. Am J Med Genet. 1982 Mar;11(3):353–358. doi: 10.1002/ajmg.1320110312. [DOI] [PubMed] [Google Scholar]
  144. Zaletajev D. V., Marincheva G. S. Langer-Giedion syndrome, in a child with complex structural aberration of chromosome 8. Hum Genet. 1983;63(2):178–182. doi: 10.1007/BF00291541. [DOI] [PubMed] [Google Scholar]
  145. de Jongh B. M., Blacklock H. A., Reekers P., Volkers W. S., Meera Khan P., Bernini L. F., Nijenhuis L. E., van Loghem E., Schreuder G. M., van Rood J. J. Absence of close linkage between Hereditary spherocytosis (SPH) and 24 genetic marker systems including HLA and GM. Ann Hum Genet. 1983 Jan;47(Pt 1):55–65. doi: 10.1111/j.1469-1809.1983.tb00970.x. [DOI] [PubMed] [Google Scholar]
  146. de Vijlder J. J., van Voorthuizen W. F., van Dijk J. E., Rijnberk A., Tegelaers W. H. Hereditary congenital goiter with thyroglobulin deficiency in a breed of goats. Endocrinology. 1978 Apr;102(4):1214–1222. doi: 10.1210/endo-102-4-1214. [DOI] [PubMed] [Google Scholar]
  147. de la Chapelle A., Icen A., Aula P., Leisti J., Turleau C., de Grouchy J. Mapping of the gene for glutathione reductase on chromosome 8. Ann Genet. 1976 Dec;19(4):253–256. [PubMed] [Google Scholar]
  148. de la Chapelle A., Vuopio P., Icén A. Trisomy 8 in the bone marrow associated with high red cell glutathione reductase activity. Blood. 1976 May;47(5):815–826. [PubMed] [Google Scholar]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group

RESOURCES