Article
Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses.
Cell - 20 Sept 1991
Coulombe P A, Hutton M E, Letai A, Hebert A, Paller A S, Fuchs E
Abstract excerpt
Previously we demonstrated that transgenic mice expressing mutant basal epidermal keratin genes exhibited a phenotype resembling a group of autosomal dominant human skin disorders known as epidermolysis bullosa simplex (EBS). EBS diseases affect approximately 1: 50,000 and are of unknown etiology, although all subtypes exhibit blistering arising from basal cell cytolysis. We now demonstrate that two patients with...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.