Article
Novel KRT14 mutation in a Taiwanese patient with epidermolysis bullosa simplex (Köbner type).
Journal of the Formosan Medical Association = Taiwan yi zhi - 1 Apr 2002
Chao Sheau-Chiou, Yang Mei-Hui, Lee Shu-Fen
Abstract excerpt
Epidermolysis bullosa simplex (EBS) is a group of hereditary bullous diseases characterized by intraepidermal blistering due to mechanical stress-induced degeneration of basal keratinocytes. Three major subtypes have been identified with autosomal dominant inheritance: the Weber-Cockayne type, the Köbner type (EBS-K), and the Dowling-Meara type. All three EBS subtypes are caused by mutations in either keratin 5...
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