Article
Epidermolysis bullosa simplex due to KRT5 mutations: mutation-related differences in cellular fragility and the protective effects of trimethylamine N-oxide in cultured primary keratinocytes.
The British journal of dermatology - 1 May 2010
Chamcheu J C, Virtanen M, Navsaria H, Bowden P E, Vahlquist A, Törmä H
Abstract excerpt
BACKGROUND: Epidermolysis bullosa simplex (EBS) is a mechanobullous skin fragility disease characterized by cytolysis of basal keratinocytes and intraepidermal blistering often caused by mutations in keratin genes (KRT5 or KRT14). No remedies exist for these disorders presenting a need for develo...
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