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Whole-exome sequencing identifies mutations of TBC1D1 encoding a Rab-GTPase-activating protein in patients with congenital anomalies of the kidneys and urinary tract (CAKUT).
Kosfeld, Anne; Kreuzer, Martin; Daniel, Christoph; Brand, Frank; Schäfer, Anne-Kathrin; Chadt, Alexandra; Weiss, Anna-Carina; Riehmer, Vera; Jeanpierre, Cécile; Klintschar, Michael; Bräsen, Jan Hinrich; Amann, Kerstin; Pape, Lars; Kispert, Andreas; Al-Hasani, Hadi; Haffner, Dieter; Weber, Ruthild G.
Afiliación
  • Kosfeld A; Department of Human Genetics, OE 6300, Hannover Medical School, Carl-Neuberg-Str. 1, 30625, Hannover, Germany.
  • Kreuzer M; Department of Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany.
  • Daniel C; Department of Nephropathology, Friedrich-Alexander University of Erlangen-Nürnberg, Erlangen, Germany.
  • Brand F; Department of Human Genetics, OE 6300, Hannover Medical School, Carl-Neuberg-Str. 1, 30625, Hannover, Germany.
  • Schäfer AK; Institute of Molecular Biology, Hannover Medical School, Hannover, Germany.
  • Chadt A; German Diabetes Center, Leibniz Center for Diabetes Research at the Heinrich-Heine-University, Düsseldorf, Germany.
  • Weiss AC; German Center for Diabetes Research (DZD), Düsseldorf, Germany.
  • Riehmer V; Institute of Molecular Biology, Hannover Medical School, Hannover, Germany.
  • Jeanpierre C; Department of Human Genetics, OE 6300, Hannover Medical School, Carl-Neuberg-Str. 1, 30625, Hannover, Germany.
  • Klintschar M; Institut National de la Santé et de la Recherche Médicale UMR1163, Hôpital Necker-Enfants Malades, 75015, Paris, France.
  • Bräsen JH; Institut Imagine, Université Paris Descartes - Sorbonne Paris Cité, 75015, Paris, France.
  • Amann K; Department of Legal Medicine, Hannover Medical School, Hannover, Germany.
  • Pape L; Department of Pathology, Hannover Medical School, Hannover, Germany.
  • Kispert A; Department of Nephropathology, Friedrich-Alexander University of Erlangen-Nürnberg, Erlangen, Germany.
  • Al-Hasani H; Department of Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany.
  • Haffner D; Institute of Molecular Biology, Hannover Medical School, Hannover, Germany.
  • Weber RG; German Diabetes Center, Leibniz Center for Diabetes Research at the Heinrich-Heine-University, Düsseldorf, Germany.
Hum Genet ; 135(1): 69-87, 2016 Jan.
Article en En | MEDLINE | ID: mdl-26572137
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Anomalías Urogenitales / Reflujo Vesicoureteral / Proteínas Activadoras de GTPasa / Secuenciación de Nucleótidos de Alto Rendimiento / Exoma / Mutación Límite: Adolescent / Adult / Animals / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Hum Genet Año: 2016 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Alemania
Texto completo
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PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Anomalías Urogenitales / Reflujo Vesicoureteral / Proteínas Activadoras de GTPasa / Secuenciación de Nucleótidos de Alto Rendimiento / Exoma / Mutación Límite: Adolescent / Adult / Animals / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Hum Genet Año: 2016 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Alemania