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The phospholamban p.(Arg14del) pathogenic variant leads to cardiomyopathy with heart failure and is unreponsive to standard heart failure therapy.
Eijgenraam, Tim R; Boukens, Bastiaan J; Boogerd, Cornelis J; Schouten, E Marloes; van de Kolk, Cees W A; Stege, Nienke M; Te Rijdt, Wouter P; Hoorntje, Edgar T; van der Zwaag, Paul A; van Rooij, Eva; van Tintelen, J Peter; van den Berg, Maarten P; van der Meer, Peter; van der Velden, Jolanda; Silljé, Herman H W; de Boer, Rudolf A.
Afiliación
  • Eijgenraam TR; Department of Experimental Cardiology, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.
  • Boukens BJ; Department of Medical Biology, University of Amsterdam, Amsterdam University Medical Center, Amsterdam, the Netherlands.
  • Boogerd CJ; Department of Experimental Cardiology, University of Amsterdam, Amsterdam University Medical Center, Amsterdam, the Netherlands.
  • Schouten EM; Hubrecht Institute, Royal Netherlands Academy of Arts and Sciences (KNAW), University Medical Center Utrecht, Utrecht, the Netherlands.
  • van de Kolk CWA; Department of Experimental Cardiology, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.
  • Stege NM; Central Animal Facility, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.
  • Te Rijdt WP; Groningen Small Animal Imaging Facility, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.
  • Hoorntje ET; Department of Experimental Cardiology, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.
  • van der Zwaag PA; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.
  • van Rooij E; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.
  • van Tintelen JP; Netherlands Heart Institute, Utrecht, the Netherlands.
  • van den Berg MP; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.
  • van der Meer P; Hubrecht Institute, Royal Netherlands Academy of Arts and Sciences (KNAW), University Medical Center Utrecht, Utrecht, the Netherlands.
  • van der Velden J; Department of Genetics, University of Utrecht, University Medical Center Utrecht, Utrecht, the Netherlands.
  • Silljé HHW; Department of Experimental Cardiology, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.
  • de Boer RA; Department of Experimental Cardiology, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.
Sci Rep ; 10(1): 9819, 2020 06 17.
Article en En | MEDLINE | ID: mdl-32555305

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Proteínas de Unión al Calcio / Insuficiencia Cardíaca / Mutación / Cardiomiopatías Tipo de estudio: Etiology_studies / Risk_factors_studies Idioma: En Revista: Sci Rep Año: 2020 Tipo del documento: Article

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Proteínas de Unión al Calcio / Insuficiencia Cardíaca / Mutación / Cardiomiopatías Tipo de estudio: Etiology_studies / Risk_factors_studies Idioma: En Revista: Sci Rep Año: 2020 Tipo del documento: Article