Title : Pretibial dystrophic epidermolysis bullosa: a recessively inherited COL7A1 splice site mutation affecting procollagen VII processing.

Pub. Date : 1999 Nov

PMID : 10583163






1 Functional Relationships(s)
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1 Mutations in the type VII collagen gene (COL7A1) underlie EBD and in a dominant PEB family a glycine substitution mutation has been identified. Glycine collagen type VII alpha 1 chain Homo sapiens