Article
Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa.
The Journal of investigative dermatology - 1 Jun 1999
Mellerio J E, Ashton G H, Mohammedi R, Lyon C C, Kirby B, Harman K E, Salas-Alanis J C, Atherton D J, Harrison P V, Griffiths W A, Black M M, Eady R A, McGrath J A
Abstract excerpt
The inherited mechanobullous disease, dystrophic epidermolysis bullosa, is caused by type VII collagen gene (COL7A1) mutations. We studied six unrelated patients with a distinct clinical subtype of this disease, epidermolysis bullosa pruriginosa, characterized by pruritus, excoriated prurigo nodules, and skin fragility. Mutation analysis using polymerase chain reaction amplification of genomic DNA, heteroduplex...
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