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End Stage Mitochondrial Cardiomyopathy and Heart Transplantation Due to Biallelic Pathogenic C1QBP Variants.
Wilcox, Nicholas S; Prenner, Stuart B; Cevasco, Marisa; Condit, Courtney; Goldstein, Amy; Peterson, James T; Tondi Resta, Isabella; Palmer, Matthew; Lal, Priti; Owens, Anjali Tiku; Pieretti, Janice; Drivas, Theodore G; Reza, Nosheen.
Afiliação
  • Wilcox NS; Division of Cardiovascular Medicine (N.S.W., S.B.P., A.T.O., J.P., N.R.), Perelman School of Medicine at the University of Pennsylvania.
  • Prenner SB; Division of Cardiovascular Medicine (N.S.W., S.B.P., A.T.O., J.P., N.R.), Perelman School of Medicine at the University of Pennsylvania.
  • Cevasco M; Department of Medicine, Division of Cardiovascular Surgery, Department of Surgery (M.C.), Perelman School of Medicine at the University of Pennsylvania.
  • Condit C; Division of Translational Medicine and Human Genetics (C.C., T.G.D.), Perelman School of Medicine at the University of Pennsylvania.
  • Goldstein A; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, PA (A.G., J.T.P.).
  • Peterson JT; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, PA (A.G., J.T.P.).
  • Tondi Resta I; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia (I.T.R., M.P., P.L.).
  • Palmer M; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia (I.T.R., M.P., P.L.).
  • Lal P; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia (I.T.R., M.P., P.L.).
  • Owens AT; Division of Cardiovascular Medicine (N.S.W., S.B.P., A.T.O., J.P., N.R.), Perelman School of Medicine at the University of Pennsylvania.
  • Pieretti J; Division of Cardiovascular Medicine (N.S.W., S.B.P., A.T.O., J.P., N.R.), Perelman School of Medicine at the University of Pennsylvania.
  • Drivas TG; Division of Translational Medicine and Human Genetics (C.C., T.G.D.), Perelman School of Medicine at the University of Pennsylvania.
  • Reza N; Department of Genetics (T.G.D.), Perelman School of Medicine at the University of Pennsylvania.
Circ Genom Precis Med ; 15(2): e003559, 2022 04.
Article em En | MEDLINE | ID: mdl-35119291

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Proteínas de Transporte / Transplante de Coração / Proteínas Mitocondriais / Cardiomiopatias Limite: Humans Idioma: En Revista: Circ Genom Precis Med Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Proteínas de Transporte / Transplante de Coração / Proteínas Mitocondriais / Cardiomiopatias Limite: Humans Idioma: En Revista: Circ Genom Precis Med Ano de publicação: 2022 Tipo de documento: Article