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Pathogenicity of POFUT1 in Dowling-Degos disease: additional mutations and clinical overlap with reticulate acropigmentation of kitamura.
Buket Basmanav, F; Fritz, Günter; Lestringant, Gilles G; Pachat, Divya; Hoffjan, Sabine; Fischer, Johannes; Wehner, Maria; Wolf, Sabrina; Thiele, Holger; Altmüller, Janine; Pulimood, Susanne A; Rütten, Arno; Kruse, Roland; Hanneken, Sandra; Frank, Jorge; Danda, Sumita; Bygum, Anette; Betz, Regina C.
Afiliação
  • Buket Basmanav F; Institute of Human Genetics, University of Bonn, Bonn, Germany.
  • Fritz G; Department of Neuropathology, Neurozentrum, University of Freiburg, Freiburg, Germany.
  • Lestringant GG; Division of Dermatology, Tawam University Hospital, Al Ain, United Arab Emirates.
  • Pachat D; Department of Clinical Genetics, Christian Medical College and Hospital, Vellore, Tamil Nadu, India.
  • Hoffjan S; Department of Human Genetics, Ruhr-University, Bochum, Germany.
  • Fischer J; Institute of Human Genetics, University of Bonn, Bonn, Germany.
  • Wehner M; Institute of Human Genetics, University of Bonn, Bonn, Germany.
  • Wolf S; Institute of Human Genetics, University of Bonn, Bonn, Germany.
  • Thiele H; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
  • Altmüller J; Cologne Center for Genomics, University of Cologne, Cologne, Germany; Institute of Human Genetics, University of Cologne, Cologne, Germany.
  • Pulimood SA; Department of Dermatology, Christian Medical College and Hospital, Vellore, Tamil Nadu, India.
  • Rütten A; Laboratory of Dermatohistopathology, Friedrichshafen, Germany.
  • Kruse R; Dermatological Practice, Paderborn, Germany.
  • Hanneken S; Department of Dermatology, University Hospital Düsseldorf, Düsseldorf, Germany.
  • Frank J; Department of Dermatology, University Hospital Düsseldorf, Düsseldorf, Germany; Skin Cancer Center, University Hospital Düsseldorf, Düsseldorf, Germany.
  • Danda S; Department of Clinical Genetics, Christian Medical College and Hospital, Vellore, Tamil Nadu, India.
  • Bygum A; Department of Dermatology and Allergy Centre, Odense University Hospital, Odense, Denmark.
  • Betz RC; Institute of Human Genetics, University of Bonn, Bonn, Germany. Electronic address: regina.betz@uni-bonn.de.
J Invest Dermatol ; 135(2): 615-618, 2015 Feb.
Article em En | MEDLINE | ID: mdl-25229252
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Dermatopatias Genéticas / Dermatopatias Papuloescamosas / Hiperpigmentação / Fucosiltransferases / Mutação Limite: Adult / Humans / Middle aged Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Dermatopatias Genéticas / Dermatopatias Papuloescamosas / Hiperpigmentação / Fucosiltransferases / Mutação Limite: Adult / Humans / Middle aged Idioma: En Ano de publicação: 2015 Tipo de documento: Article