title: Identification of a recurrent mutation in keratin 17 in a Japanese family with pachyonychia congenita type 2.
authors.forename: Takafumi
authors.initials: T
authors.lastname: Uchida
authors.forename: Makoto
authors.initials: M
authors.lastname: Inaoki
authors.forename: Eiichi
authors.initials: E
authors.lastname: Makino
authors.forename: Wataru
authors.initials: W
authors.lastname: Fujimoto
mesh_terms: D000225:Adenine; D000328:Adult; D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D006147:Guanine; D006801:Humans; D007633:Keratins / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D009260:Nail Diseases / Q000235:genetics*; D010375:Pedigree
chemical_list: D006147:Guanine; D007633:Keratins; D000225:Adenine