A novel missense mutation in the COL7A1 gene causes epidermolysis bullosa pruriginosa
β Scribed by B.-J. Shi; J. Feng
- Book ID
- 108695184
- Publisher
- John Wiley and Sons
- Year
- 2009
- Tongue
- English
- Weight
- 164 KB
- Volume
- 34
- Category
- Article
- ISSN
- 0307-6938
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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
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