title: The first familial cases of epidermolysis bullosa simplex, generalized severe with p.Asn176Ser in KRT5 revealing the clinical chronology.
authors.affiliation: Department of Dermatology, Hokkaido University Graduate School of Medicine, N15W7, Sapporo, 060-8638, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Sugai
authors.affiliation: Department of Dermatology, Hokkaido University Graduate School of Medicine, N15W7, Sapporo, 060-8638, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Shinkuma
authors.affiliation: Department of Dermatology, Kimitsu Chuo Hospital, 1010, Sakurai, Kisarazu, Chiba, 292-8535, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Inafuku
authors.affiliation: Department of Dermatology, Hokkaido University Graduate School of Medicine, N15W7, Sapporo, 060-8638, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Takashima
authors.affiliation: Department of Dermatology, Hokkaido University Graduate School of Medicine, N15W7, Sapporo, 060-8638, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Nomura
authors.affiliation: Department of Dermatology, Hokkaido University Graduate School of Medicine, N15W7, Sapporo, 060-8638, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Fujita
authors.affiliation: Department of Dermatology, Hokkaido University Graduate School of Medicine, N15W7, Sapporo, 060-8638, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Nakamura
authors.affiliation: Department of Dermatology, Hokkaido University Graduate School of Medicine, N15W7, Sapporo, 060-8638, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Shimizu
mesh_terms: D000328:Adult; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D018450:Disease Progression; D016110:Epidermolysis Bullosa Simplex / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D005260:Female; D006801:Humans; D007223:Infant; D053555:Keratin-5 / Q000235:genetics* / Q000378:metabolism; D008297:Male; D046529:Microscopy, Electron, Transmission; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D012867:Skin / Q000648:ultrastructure*
chemical_list: C503940:KRT5 protein, human; D053555:Keratin-5; D004247:DNA