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. 1978;12:95–104.

Molecular abnormalities of collagen

F M Pope 1, A C Nicholls 1
PMCID: PMC1347127  PMID: 103936

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Selected References

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

  1. BAZEX A., DUPRE A. Acrogeria type Gottron; a propos d'une observation; place de l'Acrogeria dans le cadre des atrophies cutanées congénitales. Ann Dermatol Syphiligr (Paris) 1955 Nov-Dec;82(6):604–625. [PubMed] [Google Scholar]
  2. Barabas A. P. Heterogeneity of the Ehlers-Danlos syndrome: description of three clinical types and a hypothesis to explain the basic defect(s). Br Med J. 1967 Jun 3;2(5552):612–613. doi: 10.1136/bmj.2.5552.612. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Byers P. H., Holbrook K. A., Hall J. G., Bornstein P., Chandler J. W. A new variety of spondyloepiphyseal dysplasia characterized by punctate corneal dystrophy and abnormal dermal collagen fibrils. Hum Genet. 1978 Jan 19;40(2):157–169. doi: 10.1007/BF00272296. [DOI] [PubMed] [Google Scholar]
  4. Di Ferrante N., Leachman R. D., Angelini P., Donnelly P. V., Francis G., Almazan A. Lysyl oxidase deficiency in Ehlers-Danlos syndrome type V. Connect Tissue Res. 1975;3(1):49–53. doi: 10.3109/03008207509152341. [DOI] [PubMed] [Google Scholar]
  5. Fried K., Krakowsky D. Probable autosomal recessive Marfan syndrome. J Med Genet. 1977 Oct;14(5):359–361. doi: 10.1136/jmg.14.5.359. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Helle O., Nes N. N. A hereditary skin defect in sheep. Acta Vet Scand. 1972;13(3):443–445. doi: 10.1186/BF03547060. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Kang E. S., Byers R. K., Gerald P. S. Homocystinuria. Response to pyridoxine. Neurology. 1970 May;20(5):503–507. doi: 10.1212/wnl.20.5.503. [DOI] [PubMed] [Google Scholar]
  8. Lenaers A., Ansay M., Nusgens B. V., Lapière C. M. Collagen made of extended -chains, procollagen, in genetically-defective dermatosparaxic calves. Eur J Biochem. 1971 Dec 10;23(3):533–543. doi: 10.1111/j.1432-1033.1971.tb01651.x. [DOI] [PubMed] [Google Scholar]
  9. Levin L. S., Salinas C. F., Jorgenson R. J. Classification of osteogenesis imperfecta by dental characteristics. Lancet. 1978 Feb 11;1(8059):332–333. doi: 10.1016/s0140-6736(78)90108-3. [DOI] [PubMed] [Google Scholar]
  10. Lichtenstein J. R., Martin G. R., Kohn L. D., Byers P. H., McKusick V. A. Defect in conversion of procollagen to collagen in a form of Ehlers-Danlos syndrome. Science. 1973 Oct 19;182(4109):298–300. doi: 10.1126/science.182.4109.298. [DOI] [PubMed] [Google Scholar]
  11. MAROTEAUX P., LAMY M. THE MALADY OF TOULOUSE-LAUTREC. JAMA. 1965 Mar 1;191:715–717. doi: 10.1001/jama.1965.03080090029007. [DOI] [PubMed] [Google Scholar]
  12. McGee J. O., Fallon A. Hepatic cirrhosis--a collagen formative disease? J Clin Pathol Suppl (R Coll Pathol) 1978;12:150–157. [PMC free article] [PubMed] [Google Scholar]
  13. McGee J. O., Fallon A. Hepatic cirrhosis--a collagen formative disease? J Clin Pathol Suppl (R Coll Pathol) 1978;12:150–157. [PMC free article] [PubMed] [Google Scholar]
  14. McGee J. O., O'Hare R. P., Patrick R. S. Stimulation of the collagen biosynthetic pathway by factors isolated from experimentally-injured liver. Nat New Biol. 1973 May 23;243(125):121–123. [PubMed] [Google Scholar]
  15. McKUSICK V. A. Hereditary disorders of connective tissue. Bull N Y Acad Med. 1959 Mar;35(3):143–156. [PMC free article] [PubMed] [Google Scholar]
  17. Penttinen R. P., Lichtenstein J. R., Martin G. R., McKusick V. A. Abnormal collagen metabolism in cultured cells in osteogenesis imperfecta. Proc Natl Acad Sci U S A. 1975 Feb;72(2):586–589. doi: 10.1073/pnas.72.2.586. [DOI] [PMC free article] [PubMed] [Google Scholar]
  18. Pinnell S. R., Krane S. M., Kenzora J. E., Glimcher M. J. A heritable disorder of connective tissue. Hydroxylysine-deficient collagen disease. N Engl J Med. 1972 May 11;286(19):1013–1020. doi: 10.1056/NEJM197205112861901. [DOI] [PubMed] [Google Scholar]
  19. Pope F. M. Autosomal dominant pseudoxanthoma elasticum. J Med Genet. 1974 Jun;11(2):152–157. doi: 10.1136/jmg.11.2.152. [DOI] [PMC free article] [PubMed] [Google Scholar]
  20. Pope F. M. Letter: Collagen and osteogenesis imperfecta. Lancet. 1976 May 8;1(7967):1024–1024. doi: 10.1016/s0140-6736(76)91902-4. [DOI] [PubMed] [Google Scholar]
  21. Pope F. M., Martin G. R., Lichtenstein J. R., Penttinen R., Gerson B., Rowe D. W., McKusick V. A. Patients with Ehlers-Danlos syndrome type IV lack type III collagen. Proc Natl Acad Sci U S A. 1975 Apr;72(4):1314–1316. doi: 10.1073/pnas.72.4.1314. [DOI] [PMC free article] [PubMed] [Google Scholar]
  22. Pope F. M., Martin G. R., McKusick V. A. Inheritance of Ehlers-Danlos type IV syndrome. J Med Genet. 1977 Jun;14(3):200–204. doi: 10.1136/jmg.14.3.200. [DOI] [PMC free article] [PubMed] [Google Scholar]
  23. Pope F. M. Two types of autosomal recessive pseudoxanthoma elasticum. Arch Dermatol. 1974 Aug;110(2):209–212. [PubMed] [Google Scholar]
  24. Rowe D. W., McGoodwin E. B., Martin G. R., Sussman M. D., Grahn D., Faris B., Franzblau C. A sex-linked defect in the cross-linking of collagen and elastin associated with the mottled locus in mice. J Exp Med. 1974 Jan 1;139(1):180–192. doi: 10.1084/jem.139.1.180. [DOI] [PMC free article] [PubMed] [Google Scholar]
  25. Sewell A. C., Spranger J. W., Pennock C. A. Epiphyseal cartilage chemistry in thanatophoric dwarfism. Lancet. 1977 Apr 16;1(8016):854–854. doi: 10.1016/s0140-6736(77)92798-2. [DOI] [PubMed] [Google Scholar]
  26. Spranger J. W., Langer L. O., Jr Spondyloepiphyseal dysplasia congenita. Radiology. 1970 Feb;94(2):313–322. doi: 10.1148/94.2.313. [DOI] [PubMed] [Google Scholar]
  27. Sussman M., Lichtenstein J. R., Nigra T. P., Martin G. R., McKusick V. A. Hydroxylysine-deficient skin collagen in a patient with a form of the Ehlers-Danlos syndrome. J Bone Joint Surg Am. 1974 Sep;56(6):1228–1234. [PubMed] [Google Scholar]
  28. Sykes B., Francis M. J., Smith R. Altered relation of two collagen types in osteogenesis imperfecta. N Engl J Med. 1977 May 26;296(21):1200–1203. doi: 10.1056/NEJM197705262962104. [DOI] [PubMed] [Google Scholar]
  29. Walker B. A., Beighton P. H., Murdoch J. L. The marfanoid hypermobility syndrome. Ann Intern Med. 1969 Aug;71(2):349–352. doi: 10.7326/0003-4819-71-2-349. [DOI] [PubMed] [Google Scholar]

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