Article
Severe epidermolysis bullosa simplex phenotype caused by codominant mutations p.Ile377Thr in keratin 14 and p.Gly138Glu in keratin 5.
Experimental dermatology - 1 Oct 2020
Bchetnia Mbarka, Allard Jean-Pascal, Boucher-Lafleur Anne-Marie, Cruz Marino Tania, Dupéré Audrey, Powell Julie, McCuaig Catherine, Bernier Marie-Ève, Laprise Catherine
Abstract excerpt
Epidermolysis bullosa simplex (EBS) is a rare skin disease usually inherited in an autosomal dominant pattern. EBS is resulting from mutations in keratin 5 (KRT5) and keratin 14 (KRT14) genes encoding the keratins 5 and 14 proteins expressed in the keratinocytes of the basal layer of the epidermis. To date, seven pathogenic mutations have been reported to be responsible for EBS in the Canadian population from the...
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