A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa
โ Scribed by Christiano, Angela M.; Greenspan, Daniel S.; Hoffman, Guy G.; Zhang, Xin; Tamai, Yoshiko; Lin, Andrew N.; Dietz, Harry C.; Hovnanian, Alain; Uitto, Jouni
- Book ID
- 109915938
- Publisher
- Nature Publishing Group
- Year
- 1993
- Tongue
- English
- Weight
- 529 KB
- Volume
- 4
- Category
- Article
- ISSN
- 1061-4036
No coin nor oath required. For personal study only.
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
## Background: Dystrophic epidermolysis bullosa (deb) is a bullous skin disease caused by mutations in the type vii collagen gene (col7a1). ## Objective: To elucidate the mutations shown by two patients with deb and understand the clinical phenotypes that they displayed. ## Methods: We have cha