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A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa

โœ 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

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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

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## 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