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Mutations in POGLUT1 in Galli-Galli/Dowling-Degos disease.
Wilson, N J; Cole, C; Kroboth, K; Hunter, W N; Mann, J A; McLean, W H I; Kernland Lang, K; Beltraminelli, H; Sabroe, R A; Tiffin, N; Sobey, G J; Borradori, L; Simpson, E; Smith, F J D.
Afiliação
  • Wilson NJ; Dermatology and Genetic Medicine, Division of Biological Chemistry and Drug Discovery, School of Life Sciences, University of Dundee, Dundee, U.K.
  • Cole C; Dermatology and Genetic Medicine, Division of Biological Chemistry and Drug Discovery, School of Life Sciences, University of Dundee, Dundee, U.K.
  • Kroboth K; Division of Computational Biology, School of Life Sciences, University of Dundee, Dundee, U.K.
  • Hunter WN; Dermatology and Genetic Medicine, Division of Biological Chemistry and Drug Discovery, School of Life Sciences, University of Dundee, Dundee, U.K.
  • Mann JA; Division of Biological Chemistry and Drug Discovery, School of Life Sciences, University of Dundee, Dundee, U.K.
  • McLean WH; Department of Dermatology, Oregon Health & Sciences University, Portland, OR, U.S.A.
  • Kernland Lang K; Division of Dermatology, Dartmouth-Hitchcock Medical Center, Lebanon, NH, U.S.A.
  • Beltraminelli H; Dermatology and Genetic Medicine, Division of Biological Chemistry and Drug Discovery, School of Life Sciences, University of Dundee, Dundee, U.K.
  • Sabroe RA; Department of Dermatology, University Hospital-Inselspital Bern, University of Bern, Bern, Switzerland.
  • Tiffin N; Department of Dermatology, University Hospital-Inselspital Bern, University of Bern, Bern, Switzerland.
  • Sobey GJ; Department of Dermatology, Royal Hallamshire Hospital, Sheffield, U.K.
  • Borradori L; Department of Histopathology, Royal Hallamshire Hospital, Sheffield, U.K.
  • Simpson E; Department of Clinical Genetics, Sheffield Children's Hospital, Sheffield, U.K.
  • Smith FJ; Department of Dermatology, University Hospital-Inselspital Bern, University of Bern, Bern, Switzerland.
Br J Dermatol ; 176(1): 270-274, 2017 Jan.
Article em En | MEDLINE | ID: mdl-27479915

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Dermatopatias Genéticas / Dermatopatias Papuloescamosas / Hiperpigmentação / Mutação de Sentido Incorreto / Glucosiltransferases Tipo de estudo: Diagnostic_studies Limite: Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Br J Dermatol Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Reino Unido

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Dermatopatias Genéticas / Dermatopatias Papuloescamosas / Hiperpigmentação / Mutação de Sentido Incorreto / Glucosiltransferases Tipo de estudo: Diagnostic_studies Limite: Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Br J Dermatol Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Reino Unido