Article
Late-onset inversa recessive dystrophic epidermolysis bullosa caused by glycine substitutions in collagen type VII.
The British journal of dermatology - 1 May 2011
Leverkus M, Ambach A, Hoefeld-Fegeler M, Kohlhase J, Schmidt E, Schumann H, Has C, Gollnick H
Abstract excerpt
Dystrophic epidermolysis bullosa (DEB) is a rare hereditary skin disorder caused by mutations in COL7A1, encoding collagen type VII.1 Clinical manifestations of COL7A1 mutations range from generalized skin blistering to mild localized blistering or nail dystrophy.2 The investigation of the molecular basis of DEB has revealed more than 540 different mutations that cannot entirely explain phenotypic variations...
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