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A case of recessive dystrophic epidermolysis bullosa caused by compound heterozygous mutations in the COL7A1 gene

✍ 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

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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