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Functional testing of keratin 14 mutant proteins associated with the three major subtypes of epidermolysis bullosa simplex

Abstract: Epidermolysis bullosa simplex (EBS) is a group of autosomal dominantly inherited skin disorders characterized by the development of intra‐epidermal skin blisters on mild mechanical trauma. The three major clinical subtypes (Weber‐Cockayne, Koebner and Dowling‐Meara) are all caused by mutations in either the keratin 5 (KRT5) or keratin 14 (KRT14) gene.