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Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability.
Schlingmann, Karl P; Bandulik, Sascha; Mammen, Cherry; Tarailo-Graovac, Maja; Holm, Rikke; Baumann, Matthias; König, Jens; Lee, Jessica J Y; Drögemöller, Britt; Imminger, Katrin; Beck, Bodo B; Altmüller, Janine; Thiele, Holger; Waldegger, Siegfried; Van't Hoff, William; Kleta, Robert; Warth, Richard; van Karnebeek, Clara D M; Vilsen, Bente; Bockenhauer, Detlef; Konrad, Martin.
Afiliação
  • Schlingmann KP; Department of General Pediatrics, University Children's Hospital, Münster 48149, Germany. Electronic address: karlpeter.schlingmann@ukmuenster.de.
  • Bandulik S; Medical Cell Biology, University of Regensburg, Regensburg 93053, Germany.
  • Mammen C; Division of Nephrology, Department of Pediatrics, University of British Columbia, Vancouver, BC V6H 3V4, Canada.
  • Tarailo-Graovac M; Departments of Biochemistry, Molecular Biology, and Medical Genetics, Cumming School of Medicine, Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB T2N 1N4, Canada.
  • Holm R; Department of Biomedicine, Aarhus University, Aarhus 8000, Denmark.
  • Baumann M; Department of Pediatrics I, Medical University of Innsbruck, Innsbruck 6020, Austria.
  • König J; Department of General Pediatrics, University Children's Hospital, Münster 48149, Germany.
  • Lee JJY; Department of Medical Genetics, Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, BC V6T 1Z3, Canada.
  • Drögemöller B; Department of Medical Genetics, Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, BC V6T 1Z3, Canada.
  • Imminger K; Medical Cell Biology, University of Regensburg, Regensburg 93053, Germany.
  • Beck BB; Institute of Human Genetics, University of Cologne, Cologne 50931, Germany; Center for Molecular Medicine Cologne, Cologne 50931, Germany; Center for Rare and hereditary Kidney Disease, Cologne 50931, Germany.
  • Altmüller J; Cologne Center for Genomics, University of Cologne, Cologne 50931, Germany.
  • Thiele H; Cologne Center for Genomics, University of Cologne, Cologne 50931, Germany.
  • Waldegger S; Department of Pediatrics I, Medical University of Innsbruck, Innsbruck 6020, Austria.
  • Van't Hoff W; Department of Pediatric Nephrology, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK.
  • Kleta R; Department of Pediatric Nephrology, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK; UCL Centre for Nephrology, London NW3 2PF, UK.
  • Warth R; Medical Cell Biology, University of Regensburg, Regensburg 93053, Germany.
  • van Karnebeek CDM; Department of Pediatrics, Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, BC V6T 1Z3, Canada; Departments of Pediatrics and Clinical Genetics, Amsterdam University Medical Center, Amsterdam, 1007, the Netherlands.
  • Vilsen B; Department of Biomedicine, Aarhus University, Aarhus 8000, Denmark.
  • Bockenhauer D; Department of Pediatric Nephrology, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK; UCL Centre for Nephrology, London NW3 2PF, UK.
  • Konrad M; Department of General Pediatrics, University Children's Hospital, Münster 48149, Germany.
Am J Hum Genet ; 103(5): 808-816, 2018 11 01.
Article em En | MEDLINE | ID: mdl-30388404
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Erros Inatos do Transporte Tubular Renal / Convulsões / ATPase Trocadora de Sódio-Potássio / Deficiência Intelectual / Mutação Tipo de estudo: Prognostic_studies Limite: Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Erros Inatos do Transporte Tubular Renal / Convulsões / ATPase Trocadora de Sódio-Potássio / Deficiência Intelectual / Mutação Tipo de estudo: Prognostic_studies Limite: Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Ano de publicação: 2018 Tipo de documento: Article