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An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy.
Hawley, Megan H; Almontashiri, Naif; Biesecker, Leslie G; Berger, Natalie; Chung, Wendy K; Garcia, John; Grebe, Theresa A; Kelly, Melissa A; Lebo, Matthew S; Macaya, Daniela; Mei, Hui; Platt, Julia; Richard, Gabi; Ryan, Ashley; Thomson, Kate L; Vatta, Matteo; Walsh, Roddy; Ware, James S; Wheeler, Matthew; Zouk, Hana; Mason-Suares, Heather; Funke, Birgit.
  • Hawley MH; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, Massachusetts.
  • Almontashiri N; Faculty of Applied Medical Sciences, Center for Genetics and Inherited Diseases, Taibah University, Almadinah Almunwarah, Saudi Arabia.
  • Biesecker LG; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
  • Berger N; Department of Maternal Fetal Medicine, SSM Health St Mary's Hospital, Madison, Wisconsin.
  • Chung WK; Departments of Pediatrics and Medicine, Columbia University Irving Medical Center, New York, New York.
  • Garcia J; Invitae Corporation, San Francisco, California.
  • Grebe TA; Division of Genetics and Metabolism, Department of Child Health, Phoenix Children's Hospital, University of Arizona College of Medicine, Phoenix, Arizona.
  • Kelly MA; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
  • Lebo MS; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, Massachusetts.
  • Macaya D; GeneDx, Inc, Gaithersburg, Maryland.
  • Mei H; GeneDx, Inc, Gaithersburg, Maryland.
  • Platt J; Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, California.
  • Richard G; GeneDx, Inc, Gaithersburg, Maryland.
  • Ryan A; Division of Genetics and Metabolism, Department of Child Health, Phoenix Children's Hospital, University of Arizona College of Medicine, Phoenix, Arizona.
  • Thomson KL; Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
  • Vatta M; Invitae Corporation, San Francisco, California.
  • Walsh R; Department of Clinical and Experimental Cardiology, Heart Centre, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherland.
  • Ware JS; National Heart and Lung Institute, Imperial College London, London, UK.
  • Wheeler M; Cardiovascular Research Centre, Royal Brompton and Harefield Hospitals NHS Foundation Trust, Harefield, UK.
  • Zouk H; Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, California.
  • Mason-Suares H; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, Massachusetts.
  • Funke B; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, Massachusetts.
Hum Mutat ; 41(9): 1577-1587, 2020 09.
Article en En | MEDLINE | ID: mdl-32516855
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Vinculina / Predisposición Genética a la Enfermedad / Mutación con Pérdida de Función / Cardiomiopatías Tipo de estudio: Observational_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Año: 2020 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Vinculina / Predisposición Genética a la Enfermedad / Mutación con Pérdida de Función / Cardiomiopatías Tipo de estudio: Observational_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Año: 2020 Tipo del documento: Article