Article
Three cases of de novo dominant dystrophic epidermolysis bullosa associated with the mutation G2043R in COL7A1.
Clinical and experimental dermatology - 1 Jan 2001
Wessagowit V, Ashton G H, Mohammedi R, Salas-Alanis J C, Denyer J E, Mellerio J E, Eady R A, McGrath J A
Abstract excerpt
In the absence of a positive family history, it is often difficult to determine whether a single case of mild-to-moderately severe dystrophic epidermolysis bullosa (DEB) represents autosomal recessive or de novo dominant disease. Recent molecular analyses of the type VII collagen gene, COL7A1, ha...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.