Article
Mutations in EXPH5 result in autosomal recessive inherited skin fragility.
The British journal of dermatology - 1 Jan 2014
Liu L, Mellerio J E, Martinez A E, McMillan J R, Aristodemou S, Parsons M, McGrath J A
Abstract excerpt
Several different genes have been implicated in the pathophysiology of inherited blistering skin diseases. Recently, autosomal recessive loss-of-function mutations in EXPH5 (encoding exophilin-5, also known as Slac2-b, a protein involved in intracellular vesicle transport) were identified in a new mechanobullous disease resembling a form of epidermolysis bullosa simplex (EBS). Here, we searched for mutations in...
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