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Gain-of-function mutations in the calcium channel CACNA1C (Cav1.2) cause non-syndromic long-QT but not Timothy syndrome.
Wemhöner, Konstantin; Friedrich, Corinna; Stallmeyer, Birgit; Coffey, Alison J; Grace, Andrew; Zumhagen, Sven; Seebohm, Guiscard; Ortiz-Bonnin, Beatriz; Rinné, Susanne; Sachse, Frank B; Schulze-Bahr, Eric; Decher, Niels.
Afiliação
  • Wemhöner K; Institute of Physiology and Pathophysiology, Vegetative Physiology, Philipps-University of Marburg, Deutschhausstr. 1-2, 35037 Marburg, Germany.
  • Friedrich C; Institute for Genetics of Heart Diseases (IfGH), Department of Cardiovascular Medicine, University Hospital Münster, Domagkstr. 3, 48149 Münster, Germany.
  • Stallmeyer B; Institute for Genetics of Heart Diseases (IfGH), Department of Cardiovascular Medicine, University Hospital Münster, Domagkstr. 3, 48149 Münster, Germany.
  • Coffey AJ; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
  • Grace A; Department of Biochemistry, University of Cambridge, Hopkins Building, Tennis Court Road, Cambridge CB2 1QW, UK; Papworth Hospital, Cambridge CB23 3RE, UK.
  • Zumhagen S; Institute for Genetics of Heart Diseases (IfGH), Department of Cardiovascular Medicine, University Hospital Münster, Domagkstr. 3, 48149 Münster, Germany.
  • Seebohm G; Institute for Genetics of Heart Diseases (IfGH), Department of Cardiovascular Medicine, University Hospital Münster, Domagkstr. 3, 48149 Münster, Germany.
  • Ortiz-Bonnin B; Institute of Physiology and Pathophysiology, Vegetative Physiology, Philipps-University of Marburg, Deutschhausstr. 1-2, 35037 Marburg, Germany.
  • Rinné S; Institute of Physiology and Pathophysiology, Vegetative Physiology, Philipps-University of Marburg, Deutschhausstr. 1-2, 35037 Marburg, Germany.
  • Sachse FB; Nora Eccles Harrison Cardiovascular Research and Training Institute, University of Utah, 95 South 2000 East, Salt Lake City, UT 84112, USA; Department of Bioengineering, James LeVoy Sorenson Molecular Biotechnology Building, 36 S. Wasatch Drive, Salt Lake City, UT 84112, USA.
  • Schulze-Bahr E; Institute for Genetics of Heart Diseases (IfGH), Department of Cardiovascular Medicine, University Hospital Münster, Domagkstr. 3, 48149 Münster, Germany.
  • Decher N; Institute of Physiology and Pathophysiology, Vegetative Physiology, Philipps-University of Marburg, Deutschhausstr. 1-2, 35037 Marburg, Germany. Electronic address: decher@staff.uni-marburg.de.
J Mol Cell Cardiol ; 80: 186-95, 2015 Mar.
Article em En | MEDLINE | ID: mdl-25633834
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome do QT Longo / Canais de Cálcio Tipo L / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2015 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: Síndrome do QT Longo / Canais de Cálcio Tipo L / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article