title: L457F missense mutation within the 2B rod domain of keratin 9 in a Japanese family with epidermolytic palmoplantar keratoderma.
authors.affiliation: Department of Biochemistry, Aomori Prefectural Central Hospital, Aomori, Japan.
authors.forename: A
authors.initials: A
authors.lastname: Kon
authors.forename: N
authors.initials: N
authors.lastname: Ito
authors.forename: Y
authors.initials: Y
authors.lastname: Kudo
authors.forename: K
authors.initials: K
authors.lastname: Nomura
authors.forename: K
authors.initials: K
authors.lastname: Yoneda
authors.forename: K
authors.initials: K
authors.lastname: Hanada
authors.forename: I
authors.initials: I
authors.lastname: Hashimoto
authors.forename: K
authors.initials: K
authors.lastname: Takagaki
mesh_terms: D000328:Adult; D001483:Base Sequence; D006801:Humans; D007564:Japan; D053534:Keratin-9 / Q000235:genetics*; D007645:Keratoderma, Palmoplantar / Q000235:genetics* / Q000473:pathology; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree
chemical_list: C507440:KRT9 protein, human; D053534:Keratin-9