title: Japanese recurrent mutation c.6216+5G>T in COL7A1 leads to a mild phenotype of dystrophic epidermolysis bullosa.
authors.affiliation: Department of Dermatology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, 160-8582 Tokyo, Japan; Research Laboratory, KOSÉ Corporation, 48-18, Sakae-cho, Kita-ku, 114-0005 Tokyo, Japan. Electronic address: masunaga@z3.keio.jp.
authors.forename: Takuji
authors.initials: T
authors.lastname: Masunaga
authors.affiliation: Department of Dermatology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, 160-8582 Tokyo, Japan.
authors.forename: Masataka
authors.initials: M
authors.lastname: Saito
authors.affiliation: Department of Dermatology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, 160-8582 Tokyo, Japan; KOSÉ Endowed Program for Skin Care and Allergy Prevention, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, 160-8582 Tokyo, Japan.
authors.forename: Takashi
authors.initials: T
authors.lastname: Sasaki
authors.affiliation: Department of Dermatology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, 160-8582 Tokyo, Japan.
authors.forename: Akiharu
authors.initials: A
authors.lastname: Kubo
authors.affiliation: Department of Dermatology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, 160-8582 Tokyo, Japan.
authors.forename: Masayuki
authors.initials: M
authors.lastname: Amagai
authors.affiliation: Department of Dermatology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, 160-8582 Tokyo, Japan; Department of Dermatology, School of Medicine, Faculty of Medicine, Toho University, 6-11-1, Omori-nishi, Ota-ku, 143-8541 Tokyo, Japan.
authors.forename: Akira
authors.initials: A
authors.lastname: Ishiko
mesh_terms: D000483:Alleles; D044466:Asian People / Q000235:genetics*; D024143:Collagen Type VII / Q000235:genetics*; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics*; D018703:Founder Effect; D005838:Genotype; D006801:Humans; D007564:Japan; D009154:Mutation; D010641:Phenotype
chemical_list: C569053:COL7A1 protein, human; D024143:Collagen Type VII
keywords: Genodermatosis; Recurrent mutation; Skin blistering; Splice site mutation; Type VII collagen