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Premature Termination Codons in the Type VII Collagen Gene (COL7A1) Underlie Severe, Mutilating Recessive Dystrophic Epidermolysis Bullosa

โœ Scribed by Angela M. Christiano; Grant Anhalt; Sheila Gibbons; Eugene A. Bauer; Jouni Uitto


Book ID
115612099
Publisher
Elsevier Science
Year
1994
Tongue
English
Weight
974 KB
Volume
21
Category
Article
ISSN
0888-7543

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Dystrophic epidermolysis bullosa (DEB) is caused by mutations in the type VII collagen gene (COL7A1). In this study, we assessed the molecular basis of recessive DEB in five affected individuals from two Mexican families. Both fathers of the affected children were first cousins. Genomic DNA was extr

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