title: Expression of a mutated allele, non-reduced by aging, in a Japanese family with localized epidermolysis bullosa simplex due to a novel mutation, p.Arg169Gly, of keratin 5 gene.
authors.forename: Keiichi
authors.initials: K
authors.lastname: Uchiyama
authors.forename: Gen
authors.initials: G
authors.lastname: Nakanishi
authors.forename: Noriki
authors.initials: N
authors.lastname: Fujimoto
authors.forename: Hajime
authors.initials: H
authors.lastname: Nakano
authors.forename: Daisuke
authors.initials: D
authors.lastname: Sawamura
authors.forename: Toshihiro
authors.initials: T
authors.lastname: Tanaka
mesh_terms: D000293:Adolescent; D000483:Alleles; D004252:DNA Mutational Analysis; D016110:Epidermolysis Bullosa Simplex / Q000235:genetics* / Q000473:pathology; D005260:Female; D015870:Gene Expression; D006801:Humans; D053555:Keratin-5 / Q000235:genetics*; D008297:Male; D010375:Pedigree; D014034:Toes
chemical_list: D053555:Keratin-5