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
A case of recessive dystrophic epidermolysis bullosa caused by compound heterozygous mutations in the COL7A1 gene
β Scribed by S. Suzuki; Y. Shimomura; Y. Yamamoto; N. Kariya; M. Shibuya; M. Ito; H. Fujiwara
- Book ID
- 108668953
- Publisher
- John Wiley and Sons
- Year
- 2006
- Tongue
- English
- Weight
- 701 KB
- Volume
- 155
- Category
- Article
- ISSN
- 0007-0963
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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
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