title: A novel point mutation in the keratin 17 gene in a Japanese case of pachyonychia congenita type 2.
authors.forename: Takaki
authors.initials: T
authors.lastname: Hashiguchi
authors.forename: Shinichi
authors.initials: S
authors.lastname: Yotsumoto
authors.forename: Hidehiko
authors.initials: H
authors.lastname: Shimada
authors.forename: Kenjiro
authors.initials: K
authors.lastname: Terasaki
authors.forename: Mitsuru
authors.initials: M
authors.lastname: Setoyama
authors.forename: Keiko
authors.initials: K
authors.lastname: Kobayashi
authors.forename: Takeyori
authors.initials: T
authors.lastname: Saheki
authors.forename: Tamotsu
authors.initials: T
authors.lastname: Kanzaki
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D003560:Cysts / Q000235:genetics*; D006197:Hair / Q000002:abnormalities*; D006801:Humans; D007564:Japan; D007633:Keratins / Q000235:genetics*; D007645:Keratoderma, Palmoplantar / Q000235:genetics*; D008297:Male; D009260:Nail Diseases / Q000235:genetics*; D017354:Point Mutation; D012871:Skin Diseases / Q000235:genetics*
chemical_list: D007633:Keratins