Significant progress has recently been made in understanding the molecular basis of heritable skin diseases, such as epidermolysis bullosa, a group of mechano-bullous genodermatoses. In particular, the dystrophic forms of epidermolysis bullosa have been shown to result from distinct mutations in the
Characterization of mutations in the type VII collagen gene in patients with the dystrophic forms of epidermolysis bullosa
β Scribed by Christiano, Angela M.; Bauer, Eugene A.; Uitto, Jouni
- Book ID
- 122775378
- Publisher
- Elsevier Science
- Year
- 1993
- Tongue
- English
- Weight
- 72 KB
- Volume
- 6
- Category
- Article
- ISSN
- 0923-1811
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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
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