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Branch point and donor splice-site COL7A1 mutations in mild recessive dystrophic epidermolysis bullosa

✍ 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

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Recessive dystrophic epidermolysis bullo
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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

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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