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Epidermolysis bullosa simplex with mottled pigmentation with noncicatricial alopecia: identification of a recurrent p.P25L mutation in KRT5 in four affected family members.
Nagai, H; Oiso, N; Tomida, S; Sakai, K; Fujiwara, S; Nakamachi, Y; Kawano, S; Kawada, A; Nishio, K; Nishigori, C.
Affiliation
  • Nagai H; Division of Dermatology, Department of Internal Medicine, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, 650-0017, Japan. hnagai@med.kobe-u.ac.jp.
  • Oiso N; Department of Dermatology, Kinki University Faculty of Medicine, Osaka-Sayama, Japan.
  • Tomida S; Department of Genome Biology, Kinki University Faculty of Medicine, Osaka-Sayama, Japan.
  • Sakai K; Department of Genome Biology, Kinki University Faculty of Medicine, Osaka-Sayama, Japan.
  • Fujiwara S; Division of Dermatology, Department of Internal Medicine, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, 650-0017, Japan.
  • Nakamachi Y; Department of Clinical Laboratory, Kobe University Hospital, Kobe, Japan.
  • Kawano S; Division of Laboratory Medicine, Department of Internal Medicine, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, 650-0017, Japan.
  • Kawada A; Department of Dermatology, Kinki University Faculty of Medicine, Osaka-Sayama, Japan.
  • Nishio K; Department of Genome Biology, Kinki University Faculty of Medicine, Osaka-Sayama, Japan.
  • Nishigori C; Division of Dermatology, Department of Internal Medicine, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, 650-0017, Japan.
Br J Dermatol ; 174(3): 633-5, 2016 Mar.
Article in En | MEDLINE | ID: mdl-26286811
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Epidermolysis Bullosa Simplex / Mutation, Missense / Alopecia / Keratin-5 Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Female / Humans / Male Language: En Journal: Br J Dermatol Year: 2016 Document type: Article Affiliation country:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Epidermolysis Bullosa Simplex / Mutation, Missense / Alopecia / Keratin-5 Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Female / Humans / Male Language: En Journal: Br J Dermatol Year: 2016 Document type: Article Affiliation country: