Article
A recurrent COL7A1 mutation, R2814X, in British patients with recessive dystrophic epidermolysis bullosa.
Clinical and experimental dermatology - 1 Jan 1999
Mohammedi R, Mellerio J E, Ashton G H, Eady R A, McGrath J A
Abstract excerpt
Mutations in the type VII collagen gene, COL7A1, underlie all forms of dystrophic epidermolysis bullosa (DEB). The identification of COL7A1 mutations in DEB is complicated because the COL7A1 gene contains 118 distinct exons and most mutations are specific to individual families. In an attempt to simplify mutation screening procedures we searched for recurrent mutations in genomic DNA from 38 British patients with...
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