title: Identification and Characterization of a Recessive Missense Mutation p.P277L in SERPINB7 in Nagashima-Type Palmoplantar Keratosis.
authors.affiliation: Department of Dermatology, Keio University School of Medicine, Tokyo, Japan; MSD Endowed Program for Allergy Research, Keio University School of Medicine, Tokyo, Japan.
authors.forename: Aiko
authors.initials: A
authors.lastname: Shiohama
authors.affiliation: Department of Dermatology, Keio University School of Medicine, Tokyo, Japan; KOSÉ Endowed Program for Skin Care and Allergy Prevention, Keio University School of Medicine, Tokyo, Japan.
authors.forename: Takashi
authors.initials: T
authors.lastname: Sasaki
authors.affiliation: Department of Dermatology, Keio University School of Medicine, Tokyo, Japan.
authors.forename: Showbu
authors.initials: S
authors.lastname: Sato
authors.affiliation: Department of Dermatology, Hamamatsu University School of Medicine, Hamamatsu, Japan.
authors.forename: Jun-Ichi
authors.initials: J
authors.lastname: Sakabe
authors.affiliation: Department of Dermatology, Hamamatsu University School of Medicine, Hamamatsu, Japan.
authors.forename: Taisuke
authors.initials: T
authors.lastname: Ito
authors.affiliation: Mitsubishi Electric Co., Power Device Industries, Kumamoto, Japan.
authors.forename: Hideka
authors.initials: H
authors.lastname: Isoda
authors.affiliation: St Luke's International Hospital, Tokyo, Japan.
authors.forename: Yukari
authors.initials: Y
authors.lastname: Zenke
authors.affiliation: St Luke's International Hospital, Tokyo, Japan.
authors.forename: Toshiaki
authors.initials: T
authors.lastname: Nakano
authors.affiliation: Department of Dermatology, Tokyo Medical University, Tokyo, Japan.
authors.forename: Tatsuo
authors.initials: T
authors.lastname: Maeda
authors.affiliation: Department of Dermatology, School of Medicine, Toho University, Tokyo, Japan.
authors.forename: Akira
authors.initials: A
authors.lastname: Ishiko
authors.affiliation: Department of Dermatology, Kyoto University Graduate School of Medicine, Kyoto, Japan.
authors.forename: Kenji
authors.initials: K
authors.lastname: Kabashima
authors.affiliation: Department of Dermatology, Hamamatsu University School of Medicine, Hamamatsu, Japan.
authors.forename: Yoshiki
authors.initials: Y
authors.lastname: Tokura
authors.affiliation: Department of Dermatology, Tokyo Medical University, Tokyo, Japan.
authors.forename: Yoshihiko
authors.initials: Y
authors.lastname: Mitsuhashi
authors.affiliation: Department of Dermatology, Keio University School of Medicine, Tokyo, Japan; MSD Endowed Program for Allergy Research, Keio University School of Medicine, Tokyo, Japan; KOSÉ Endowed Program for Skin Care and Allergy Prevention, Keio University School of Medicine, Tokyo, Japan; Keio-Maruho Laboratory of Skin Barriology, Keio University School of Medicine, Tokyo, Japan.
authors.forename: Masayuki
authors.initials: M
authors.lastname: Amagai
authors.affiliation: Department of Dermatology, Keio University School of Medicine, Tokyo, Japan; Keio-Maruho Laboratory of Skin Barriology, Keio University School of Medicine, Tokyo, Japan. Electronic address: akiharu@a5.keio.jp.
authors.forename: Akiharu
authors.initials: A
authors.lastname: Kubo
mesh_terms: D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology*; D005838:Genotype; D006801:Humans; D007150:Immunohistochemistry; D015994:Incidence; D040582:Inheritance Patterns / Q000235:genetics; D007564:Japan / Q000453:epidemiology; D007645:Keratoderma, Palmoplantar / Q000208:ethnology* / Q000235:genetics* / Q000473:pathology; D008297:Male; D008403:Mass Screening; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D015843:Serpins / Q000235:genetics*
chemical_list: C114170:SERPINB7 protein, human; D015843:Serpins