Article
Identification of novel and known KRT5 and KRT14 mutations in 53 patients with epidermolysis bullosa simplex: correlation between genotype and phenotype.
The British journal of dermatology - 1 Jun 2010
Arin M J, Grimberg G, Schumann H, De Almeida H, Chang Y-R, Tadini G, Kohlhase J, Krieg T, Bruckner-Tuderman L, Has C
Abstract excerpt
BACKGROUND: Basal epidermolysis bullosa simplex (EBS) is a hereditary skin blistering disorder resulting in most cases from missense mutations in the keratin 5 (KRT5) or keratin 14 (KRT14) genes. OBJECTIVES: To identify the underlying mutations in different EBS subtypes and correlate genotype and phenotype. METHODS: Mutation analysis was performed in 53 patients with EBS and their families by direct sequencing of...
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