Branch point and donor splice-site COL7A1 mutations in mild recessive dystrophic epidermolysis bullosa
β Scribed by B. Drera; G. Floriddia; F. Forzano; S. Barlati; G. Zambruno; M. Colombi; D. Castiglia
- Book ID
- 108670564
- Publisher
- John Wiley and Sons
- Year
- 2009
- Tongue
- English
- Weight
- 363 KB
- Volume
- 161
- Category
- Article
- ISSN
- 0007-0963
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Loss-of-function mutations in the gene encoding type VII collagen, COL7A1, are the molecular basis of the blistering skin disorder, recessive dystrophic epidermolysis bullosa (RDEB). COL7A1 maps to a region of the short arm of chromosome 3 that has been found to be deleted in many types of malignanc
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