Article
Different phenotypes in recessive dystrophic epidermolysis bullosa patients sharing the same mutation in compound heterozygosity with two novel mutations in the type VII collagen gene.
The British journal of dermatology - 1 Sept 2002
Gardella R, Zoppi N, Zambruno G, Barlati S, Colombi M
Abstract excerpt
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 characterized two patients, one affected by the severe recessive Hallopeau-Siemens variant of DEB (HS-RDEB) and the other by a milder...
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