title: Epidermolysis bullosa simplex (Weber-Cockayne) associated with a novel missense mutation of Asp328 to Val in Linker 12 domain of keratin 5.
authors.affiliation: Department of Dermatology, Kyoto Prefectural University of Medicine, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Matsuki
authors.forename: K
authors.initials: K
authors.lastname: Hashimoto
authors.forename: K
authors.initials: K
authors.lastname: Yoshikawa
authors.forename: H
authors.initials: H
authors.lastname: Yasuno
authors.forename: K
authors.initials: K
authors.lastname: Yamanishi
mesh_terms: D000595:Amino Acid Sequence; D001224:Aspartic Acid; D001483:Base Sequence; D017931:DNA Primers; D016110:Epidermolysis Bullosa Simplex / Q000235:genetics*; D005260:Female; D006801:Humans; D007633:Keratins / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012016:Reference Values; D014633:Valine
chemical_list: D017931:DNA Primers; D001224:Aspartic Acid; D007633:Keratins; D014633:Valine