Article
Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly.
Human mutation - 1 Jul 2006
Müller Felix B, Küster Wolfgang, Wodecki Kerstin, Almeida Hiram, Bruckner-Tuderman Leena, Krieg Thomas, Korge Bernhard P, Arin Meral J
Abstract excerpt
Epidermolysis bullosa simplex (EBS) is a group of autosomal dominant genetic skin disorders caused by mutations of the keratin genes KRT5 and KRT14. It is characterised by lysis of basal keratinocytes leading to the development of intraepidermal blisters upon minor mechanical trauma. We investigated 27 EBS patients and families of mainly German origin by sequence analysis of the entire coding sequences of KRT5...
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