title: A novel recessive missense mutation in KRT14 reveals striking phenotypic heterogeneity in epidermolysis bullosa simplex.
authors.forename: Margarita
authors.initials: M
authors.lastname: Indelman
authors.forename: Reuven
authors.initials: R
authors.lastname: Bergman
authors.forename: Eli
authors.initials: E
authors.lastname: Sprecher
mesh_terms: D016110:Epidermolysis Bullosa Simplex / Q000235:genetics*; D005808:Genes, Recessive; D018740:Genetic Heterogeneity; D006801:Humans; D053547:Keratin-14; D007633:Keratins / Q000235:genetics*; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype
chemical_list: C507540:KRT14 protein, human; D053547:Keratin-14; D007633:Keratins