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Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen.
Byers PH, Duvic M, Atkinson M, Robinow M, Smith LT, Krane SM, Greally MT, Ludman M, Matalon R, Pauker S, Quanbeck D, Schwarze U. Byers PH, et al. Among authors: duvic m. Am J Med Genet. 1997 Oct 3;72(1):94-105. doi: 10.1002/(sici)1096-8628(19971003)72:1<94::aid-ajmg20>3.0.co;2-o. Am J Med Genet. 1997. PMID: 9295084
Werner's syndrome.
Duvic M, Lemak NA. Duvic M, et al. Dermatol Clin. 1995 Jan;13(1):163-8. Dermatol Clin. 1995. PMID: 7712642 Review.
586 results