title: Recurrent p.N767S mutation in the ATP2A2 gene in a Japanese family with haemorrhagic Darier disease clinically mimicking epidermolysis bullosa simplex with mottled pigmentation.
authors.affiliation: Department of Dermatology, Kurume University School of Medicine, 67 Asahimachi, Kurume 830-0011, Japan. hamataka@med.kurume-u.ac.jp
authors.forename: T
authors.initials: T
authors.lastname: Hamada
authors.forename: S
authors.initials: S
authors.lastname: Yasumoto
authors.forename: T
authors.initials: T
authors.lastname: Karashima
authors.forename: N
authors.initials: N
authors.lastname: Ishii
authors.forename: H
authors.initials: H
authors.lastname: Shimada
authors.forename: Y
authors.initials: Y
authors.lastname: Kawano
authors.forename: S
authors.initials: S
authors.lastname: Imayama
authors.forename: J A
authors.initials: JA
authors.lastname: McGrath
authors.forename: T
authors.initials: T
authors.lastname: Hashimoto
mesh_terms: D000328:Adult; D007644:Darier Disease / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D003937:Diagnosis, Differential; D016110:Epidermolysis Bullosa Simplex / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D053547:Keratin-14 / Q000235:genetics*; D010375:Pedigree; D010859:Pigmentation Disorders / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D016896:Treatment Outcome
chemical_list: D053547:Keratin-14