title: A novel keratin 5 mutation in a familial cluster.
abstract: We report a case of epidermolysis bullosa simplex (EBS) associated with a family cluster of EBS and a novel KRT5 mutation. The case is presented in the context of recent advances in the study of the disease.
authors: Department of Dermatology, University of California at Davis, CA, USA.
authors: Hadar
authors: H
authors: Lev-Tov
authors: Raja K
authors: RK
authors: Sivamani
authors: Barbara
authors: B
authors: Burrall
mesh_terms: D000328:Adult; D016110:Epidermolysis Bullosa Simplex / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D053555:Keratin-5 / Q000235:genetics*; D020125:Mutation, Missense; D010375:Pedigree
chemical_list: C503940:KRT5 protein, human; D053555:Keratin-5