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Mitochondrial cardiomyopathy and ventricular arrhythmias associated with biallelic variants in C1QBP.
Webster, Gregory; Reynolds, Meredith; Arva, Nicoleta C; Dellefave-Castillo, Lisa M; McElligott, Hilary S; Kofman, Amber; Laboski, Aleksandra; Magnetta, Defne; George, Alfred L; McNally, Elizabeth M; Puckelwartz, Megan J.
Afiliação
  • Webster G; Division of Cardiology, Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago and Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
  • Reynolds M; Department of Pathology, Ann & Robert H. Lurie Children's Hospital of Chicago and Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
  • Arva NC; Department of Pathology, Ann & Robert H. Lurie Children's Hospital of Chicago and Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
  • Dellefave-Castillo LM; Center for Genetic Medicine, Bluhm Cardiovascular Institute, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
  • McElligott HS; Office of the Coroner, DuPage County, Wheaton, Illinois, USA.
  • Kofman A; Division of Cardiology, Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago and Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
  • Laboski A; Division of Cardiology, Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago and Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
  • Magnetta D; Division of Cardiology, Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago and Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
  • George AL; Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
  • McNally EM; Center for Genetic Medicine, Bluhm Cardiovascular Institute, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
  • Puckelwartz MJ; Center for Genetic Medicine, Bluhm Cardiovascular Institute, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
Am J Med Genet A ; 185(8): 2496-2501, 2021 08.
Article em En | MEDLINE | ID: mdl-34003581
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fibrilação Ventricular / Proteínas de Transporte / Proteínas Mitocondriais / Alelos / Genes Mitocondriais / Mutação / Cardiomiopatias Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fibrilação Ventricular / Proteínas de Transporte / Proteínas Mitocondriais / Alelos / Genes Mitocondriais / Mutação / Cardiomiopatias Idioma: En Ano de publicação: 2021 Tipo de documento: Article