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Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease.
Basmanav, F Buket; Oprisoreanu, Ana-Maria; Pasternack, Sandra M; Thiele, Holger; Fritz, Günter; Wenzel, Jörg; Größer, Leopold; Wehner, Maria; Wolf, Sabrina; Fagerberg, Christina; Bygum, Anette; Altmüller, Janine; Rütten, Arno; Parmentier, Laurent; El Shabrawi-Caelen, Laila; Hafner, Christian; Nürnberg, Peter; Kruse, Roland; Schoch, Susanne; Hanneken, Sandra; Betz, Regina C.
Afiliación
  • Basmanav FB; Institute of Human Genetics, University of Bonn, D-53127 Bonn, Germany.
  • Oprisoreanu AM; Department of Neuropathology and Department of Epileptology, University of Bonn, D-53127 Bonn, Germany.
  • Pasternack SM; Institute of Human Genetics, University of Bonn, D-53127 Bonn, Germany.
  • Thiele H; Cologne Center for Genomics (CCG), University of Cologne, D-50931 Cologne, Germany.
  • Fritz G; Department of Neuropathology, Neurozentrum, University of Freiburg, D-79106 Freiburg, Germany.
  • Wenzel J; Department of Dermatology, University of Bonn, D-53127 Bonn, Germany.
  • Größer L; Department of Dermatology, University of Regensburg, D-93053 Regensburg, Germany.
  • Wehner M; Institute of Human Genetics, University of Bonn, D-53127 Bonn, Germany.
  • Wolf S; Institute of Human Genetics, University of Bonn, D-53127 Bonn, Germany.
  • Fagerberg C; Department of Clinical Genetics, Odense University Hospital, DK-5000 Odense, Denmark.
  • Bygum A; Department of Dermatology and Allergy Centre, Odense University Hospital, DK-5000 Odense, Denmark.
  • Altmüller J; Cologne Center for Genomics (CCG), University of Cologne, D-50931 Cologne, Germany.
  • Rütten A; Laboratory of Dermatohistopathology, D-88048 Friedrichshafen, Germany.
  • Parmentier L; Department of Dermatology, Berne University Hospital, CH-3008 Berne, Switzerland.
  • El Shabrawi-Caelen L; Department of Dermatology, Medical University of Graz, A-8036 Graz, Austria.
  • Hafner C; Department of Dermatology, University of Regensburg, D-93053 Regensburg, Germany.
  • Nürnberg P; Cologne Center for Genomics (CCG), University of Cologne, D-50931 Cologne, Germany; Cluster of Excellence on Cellular Stress Responses in Aging-Associated Diseases, University of Cologne, 50674 Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany.
  • Kruse R; Dermatological Practice, D-33098 Paderborn, Germany.
  • Schoch S; Department of Neuropathology and Department of Epileptology, University of Bonn, D-53127 Bonn, Germany.
  • Hanneken S; Department of Dermatology, University Hospital Düsseldorf, D-40225 Düsseldorf, Germany.
  • Betz RC; Institute of Human Genetics, University of Bonn, D-53127 Bonn, Germany. Electronic address: regina.betz@uni-bonn.de.
Am J Hum Genet ; 94(1): 135-43, 2014 Jan 02.
Article en En | MEDLINE | ID: mdl-24387993
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedades Cutáneas Genéticas / Enfermedades Cutáneas Papuloescamosas / Hiperpigmentación / Glucosiltransferasas / Mutación Límite: Adolescent / Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Am J Hum Genet Año: 2014 Tipo del documento: Article País de afiliación: Alemania
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedades Cutáneas Genéticas / Enfermedades Cutáneas Papuloescamosas / Hiperpigmentación / Glucosiltransferasas / Mutación Límite: Adolescent / Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Am J Hum Genet Año: 2014 Tipo del documento: Article País de afiliación: Alemania