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Epidermolysis Bullosa Simplex (EBS) is a heritable skin fragility disease most commonly caused by autosomal dominant mutations in the genes encoding keratin 5 and keratin 14 (KRT5 & KRT14)1. Keratin… Click to show full abstract
Epidermolysis Bullosa Simplex (EBS) is a heritable skin fragility disease most commonly caused by autosomal dominant mutations in the genes encoding keratin 5 and keratin 14 (KRT5 & KRT14)1. Keratin 5 and 14 dimerise to form intermediate filaments, which provide structure, strength and flexibility to the keratinocyte cytoskeleton. This article is protected by copyright. All rights reserved.
Keywords:
digenic inheritance;
bullosa simplex;
epidermolysis bullosa;
krt5 krt14
Journal Title: British Journal of Dermatology
Year Published: 2017
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Journal Title: British Journal of Dermatology
Year Published: 2017
Link to full text (if available)
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recommendations!