Premature Termination Codons in the Type VII Collagen Gene (COL7A1) Underlie Severe, Mutilating Recessive Dystrophic Epidermolysis Bullosa
โ 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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๐ SIMILAR VOLUMES
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
Epidermolysis bullosa (EB), a group of heritable blistering diseases characterized by tissue separation within the cutaneous basement membrane zone, is inherited either in an autosomal dominant or autosomal recessive fashion. EB has been divided into four broad categories based on the precise level