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. 1993 Mar;30(3):224–227. doi: 10.1136/jmg.30.3.224

Identification of markers flanking the tuberous sclerosis locus on chromosome 9 (TSC1).

M Nellist 1, P T Brook-Carter 1, J M Connor 1, D J Kwiatkowski 1, P Johnson 1, J R Sampson 1
PMCID: PMC1016304  PMID: 8386250

Abstract

Analysis of a large tuberous sclerosis pedigree confirmed linkage to a locus on the long arm of chromosome 9, with recombination events placing the disease gene distal to gelsolin and proximal to dopamine beta-hydroxylase.

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Selected References

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

  1. Daish P., Hardman M. J., Lamont M. A. Hydrocephalus, tall stature, joint laxity, and kyphoscoliosis: a new inherited disorder of connective tissue? J Med Genet. 1989 Jan;26(1):51–54. doi: 10.1136/jmg.26.1.51. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Haines J. L., Amos J., Attwood J., Bech-Hansen N. T., Burley M., Conneally P. M., Connor J. M., Fahsold R., Flodman P., Fryer A. Genetic heterogeneity in tuberous sclerosis. Study of a large collaborative dataset. Ann N Y Acad Sci. 1991;615:256–264. doi: 10.1111/j.1749-6632.1991.tb37767.x. [DOI] [PubMed] [Google Scholar]
  3. Haines J. L., Short M. P., Kwiatkowski D. J., Jewell A., Andermann E., Bejjani B., Yang C. H., Gusella J. F., Amos J. A. Localization of one gene for tuberous sclerosis within 9q32-9q34, and further evidence for heterogeneity. Am J Hum Genet. 1991 Oct;49(4):764–772. [PMC free article] [PubMed] [Google Scholar]
  4. Janssen L. A., Povey S., Attwood J., Sandkuyl L. A., Lindhout D., Flodman P., Smith M., Sampson J. R., Haines J. L., Merkens E. C. A comparative study on genetic heterogeneity in tuberous sclerosis: evidence for one gene on 9q34 and a second gene on 11q22-23. Ann N Y Acad Sci. 1991;615:306–315. doi: 10.1111/j.1749-6632.1991.tb37772.x. [DOI] [PubMed] [Google Scholar]
  5. Janssen L. A., Sandkuyl L. A., Merkens E. C., Maat-Kievit J. A., Sampson J. R., Fleury P., Hennekam R. C., Grosveld G. C., Lindhout D., Halley D. J. Genetic heterogeneity in tuberous sclerosis. Genomics. 1990 Oct;8(2):237–242. doi: 10.1016/0888-7543(90)90277-2. [DOI] [PubMed] [Google Scholar]
  6. Johnson P. H., Hopkinson D. A. Detection of ABO blood group polymorphism by denaturing gradient gel electrophoresis. Hum Mol Genet. 1992 Aug;1(5):341–344. doi: 10.1093/hmg/1.5.341. [DOI] [PubMed] [Google Scholar]
  7. Kwiatkowski D. J. Dinucleotide repeat polymorphism at the ABL locus (9q34). Nucleic Acids Res. 1991 Feb 25;19(4):967–967. [PMC free article] [PubMed] [Google Scholar]
  8. Kwiatkowski D. J., Henske E. P., Weimer K., Ozelius L., Gusella J. F., Haines J. Construction of a GT polymorphism map of human 9q. Genomics. 1992 Feb;12(2):229–240. doi: 10.1016/0888-7543(92)90370-8. [DOI] [PubMed] [Google Scholar]
  9. Kwiatkowski D. J., Perman S. Dinucleotide repeat polymorphism at the GSN locus (9q32-34). Nucleic Acids Res. 1991 Feb 25;19(4):967–967. [PMC free article] [PubMed] [Google Scholar]
  10. Lathrop M., Nakamura Y., O'Connell P., Leppert M., Woodward S., Lalouel J. M., White R. A mapped set of genetic markers for human chromosome 9. Genomics. 1988 Nov;3(4):361–366. doi: 10.1016/0888-7543(88)90128-0. [DOI] [PubMed] [Google Scholar]
  11. Nahmias J., Burley M. W., Povey S., Porter C., Craig I., Wolfe J. A 19 bp deletion polymorphism adjacent to a dinucleotide repeat polymorphism at the human dopamine beta-hydroxylase locus. Hum Mol Genet. 1992 Jul;1(4):286–286. doi: 10.1093/hmg/1.4.286. [DOI] [PubMed] [Google Scholar]
  12. Porter C. J., Nahmias J., Wolfe J., Craig I. W. Dinucleotide repeat polymorphism at the human dopamine beta-hydroxylase (DBH) locus. Nucleic Acids Res. 1992 Mar 25;20(6):1429–1429. doi: 10.1093/nar/20.6.1429. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. Povey S., Attwood J., Janssen L. A., Burley M., Smith M., Flodman P., Morton N. E., Edwards J. H., Sampson J. R., Yates J. R. An attempt to map two genes for tuberous sclerosis using novel two-point methods. Ann N Y Acad Sci. 1991;615:298–305. doi: 10.1111/j.1749-6632.1991.tb37771.x. [DOI] [PubMed] [Google Scholar]
  14. Povey S., Smith M., Haines J., Kwiatkowski D., Fountain J., Bale A., Abbott C., Jackson I., Lawrie M., Hultén M. Report and abstracts of the First International Workshop on Chromosome 9. Held at Girton College Cambridge, UK, 22-24 March, 1992. Ann Hum Genet. 1992 Jul;56(Pt 3):167–182. doi: 10.1111/j.1469-1809.1992.tb01145.x. [DOI] [PubMed] [Google Scholar]
  15. Yamamoto F., Hakomori S. Sugar-nucleotide donor specificity of histo-blood group A and B transferases is based on amino acid substitutions. J Biol Chem. 1990 Nov 5;265(31):19257–19262. [PubMed] [Google Scholar]
  16. Yuille M. A., Hampson R. M., Harris R. M., Affara N. A., Yates J. R., Ferguson-Smith M. A. CA repeat polymorphism at the ASS locus. Nucleic Acids Res. 1990 Dec 25;18(24):7472–7472. doi: 10.1093/nar/18.24.7472. [DOI] [PMC free article] [PubMed] [Google Scholar]

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