title: A keratin K5 mutation (Leu 463-->Pro) in a family with the Weber-Cockayne type of epidermolysis bullosa simplex.
authors.affiliation: Department of Dermatology, Hirosaki University School of Medicine, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Nomura
authors.forename: K
authors.initials: K
authors.lastname: Umeki
authors.forename: X
authors.initials: X
authors.lastname: Meng
authors.forename: K
authors.initials: K
authors.lastname: Tamai
authors.forename: D
authors.initials: D
authors.lastname: Sawamura
authors.forename: M
authors.initials: M
authors.lastname: Hosokawa
authors.forename: T
authors.initials: T
authors.lastname: Miyazawa
authors.forename: M
authors.initials: M
authors.lastname: Funayama
authors.forename: I
authors.initials: I
authors.lastname: Hashimoto
mesh_terms: D000595:Amino Acid Sequence; D002675:Child, Preschool; D016110:Epidermolysis Bullosa Simplex / Q000235:genetics*; D005260:Female; D006801:Humans; D007633:Keratins / Q000235:genetics*; D008969:Molecular Sequence Data; D010641:Phenotype; D017354:Point Mutation
chemical_list: D007633:Keratins