title: A novel threonine to proline mutation in the helix termination motif of keratin 1 in epidermolytic hyperkeratosis with severe palmoplantar hyperkeratosis and contractures of the digits.
authors.forename: S
authors.initials: S
authors.lastname: Muramatsu
authors.forename: Y
authors.initials: Y
authors.lastname: Suga
authors.forename: Y
authors.initials: Y
authors.lastname: Mizuno
authors.forename: T
authors.initials: T
authors.lastname: Hasegawa
authors.forename: H
authors.initials: H
authors.lastname: Tsuchihashi
authors.forename: S
authors.initials: S
authors.lastname: Matsuba
authors.forename: K
authors.initials: K
authors.lastname: Kohroh
authors.forename: H
authors.initials: H
authors.lastname: Yaguchi
authors.forename: H
authors.initials: H
authors.lastname: Ogawa
mesh_terms: D000328:Adult; D001483:Base Sequence; D003286:Contracture / Q000235:genetics*; D005385:Fingers; D006801:Humans; D017488:Hyperkeratosis, Epidermolytic / Q000235:genetics*; D007633:Keratins / Q000235:genetics*; D008297:Male; D009154:Mutation; D011392:Proline / Q000235:genetics; D013912:Threonine / Q000235:genetics
chemical_list: D013912:Threonine; D007633:Keratins; D011392:Proline