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A homozygous insertion–deletion in the type VII collagen gene (COL7A1) in Hallopeau–Siemens dystrophic epidermolysis bullosa

✍ Scribed by Hilal, Latifa; Rochat, Ariane; Duquesnoy, Philippe; Blanchet-Bardon, Claudine; Wechsler, Janine; Martin, Nadine; Christiano, Angela M.; Barrandon, Yann; Uitto, Jouni; Goossens, Michel


Book ID
109918552
Publisher
Nature Publishing Group
Year
1993
Tongue
English
Weight
880 KB
Volume
5
Category
Article
ISSN
1061-4036

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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