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Novel variants in TECRL cause recessive inherited CPVT type 3 with severe and variable clinical symptoms.
Moscu-Gregor, Alexander; Marschall, Christoph; Müntjes, Carsten; Schönecker, Anne; Schuessler-Hahn, Franziska; Hohendanner, Felix; Parwani, Abdul Shokor; Boldt, Leif-Hendrik; Ott, Claus-Eric; Bennewiz, Anja; Paul, Thomas; Krause, Ulrich; Rost, Imma.
Afiliação
  • Moscu-Gregor A; Department of Molecular Genetics, MVZ Martinsried GmbH, Martinsried, Germany.
  • Marschall C; Department of Molecular Genetics, MVZ Martinsried GmbH, Martinsried, Germany.
  • Müntjes C; Department of Pediatric Cardiology, Clinic for Pediatrics III, Essen University Hospital, Essen, Germany.
  • Schönecker A; Department of Pediatric Cardiology, Clinic for Pediatrics III, Essen University Hospital, Essen, Germany.
  • Schuessler-Hahn F; Division of Cardiology, Medical Department, Charité Campus Virchow-Klinikum, Berlin, Germany.
  • Hohendanner F; Division of Cardiology, Medical Department, Charité Campus Virchow-Klinikum, Berlin, Germany.
  • Parwani AS; Division of Cardiology, Medical Department, Charité Campus Virchow-Klinikum, Berlin, Germany.
  • Boldt LH; Division of Cardiology, Medical Department, Charité Campus Virchow-Klinikum, Berlin, Germany.
  • Ott CE; Institute of Medical Genetics and Human Genetics, Charité, Berlin, Germany.
  • Bennewiz A; Praxis-Kinderherz, Gesundheitszentrum Am Borsigturm, Berlin, Germany.
  • Paul T; Department of Pediatric Cardiology and Pediatric Intensive Care Medicine, University Medical Center/Göttingen, Göttingen, Germany.
  • Krause U; Department of Pediatric Cardiology and Pediatric Intensive Care Medicine, University Medical Center/Göttingen, Göttingen, Germany.
  • Rost I; Department of Molecular Genetics, MVZ Martinsried GmbH, Martinsried, Germany.
J Cardiovasc Electrophysiol ; 31(6): 1527-1535, 2020 Jun.
Article em En | MEDLINE | ID: mdl-32173957
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Oxirredutases / Amplificação de Genes / Taquicardia Ventricular / Códon sem Sentido / Variações do Número de Cópias de DNA / Mutação com Perda de Função Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Oxirredutases / Amplificação de Genes / Taquicardia Ventricular / Códon sem Sentido / Variações do Número de Cópias de DNA / Mutação com Perda de Função Idioma: En Ano de publicação: 2020 Tipo de documento: Article