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Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy.
Koskenvuo, Juha W; Saarinen, Inka; Ahonen, Saija; Tommiska, Johanna; Weckström, Sini; Seppälä, Eija H; Tuupanen, Sari; Kangas-Kontio, Tiia; Schleit, Jennifer; Heliö, Krista; Hathaway, Julie; Gummesson, Anders; Dahlberg, Pia; Ojala, Tiina H; Vepsäläinen, Ville; Kytölä, Ville; Muona, Mikko; Sistonen, Johanna; Salmenperä, Pertteli; Gentile, Massimiliano; Paananen, Jussi; Myllykangas, Samuel; Alastalo, Tero-Pekka; Heliö, Tiina.
Afiliação
  • Koskenvuo JW; Blueprint Genetics, a Quest Diagnostics Company, Espoo, Finland.
  • Saarinen I; Blueprint Genetics, a Quest Diagnostics Company, Espoo, Finland.
  • Ahonen S; Blueprint Genetics, a Quest Diagnostics Company, Espoo, Finland.
  • Tommiska J; Blueprint Genetics, a Quest Diagnostics Company, Espoo, Finland.
  • Weckström S; Heart and Lung Center, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.
  • Seppälä EH; Blueprint Genetics, a Quest Diagnostics Company, Espoo, Finland.
  • Tuupanen S; Blueprint Genetics, a Quest Diagnostics Company, Espoo, Finland.
  • Kangas-Kontio T; Blueprint Genetics, a Quest Diagnostics Company, Espoo, Finland.
  • Schleit J; Blueprint Genetics, a Quest Diagnostics Company, Espoo, Finland.
  • Heliö K; Blueprint Genetics, a Quest Diagnostics Company, Espoo, Finland.
  • Hathaway J; Blueprint Genetics Inc, a Quest Diagnostics Company, Seattle, Washington, United States of America.
  • Gummesson A; Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden.
  • Dahlberg P; Department of Cardiology, Sahlgrenska University Hospital, Gothenburg, Sweden.
  • Ojala TH; Department of Pediatric Cardiology, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.
  • Vepsäläinen V; Heart Center, Kuopio University Hospital, Kuopio, Finland.
  • Kytölä V; Blueprint Genetics, a Quest Diagnostics Company, Espoo, Finland.
  • Muona M; Blueprint Genetics, a Quest Diagnostics Company, Espoo, Finland.
  • Sistonen J; Blueprint Genetics, a Quest Diagnostics Company, Espoo, Finland.
  • Salmenperä P; Blueprint Genetics, a Quest Diagnostics Company, Espoo, Finland.
  • Gentile M; Blueprint Genetics, a Quest Diagnostics Company, Espoo, Finland.
  • Paananen J; Blueprint Genetics, a Quest Diagnostics Company, Espoo, Finland.
  • Myllykangas S; Blueprint Genetics, a Quest Diagnostics Company, Espoo, Finland.
  • Alastalo TP; Blueprint Genetics Inc, a Quest Diagnostics Company, Seattle, Washington, United States of America.
  • Heliö T; Heart and Lung Center, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.
PLoS One ; 16(2): e0245681, 2021.
Article em En | MEDLINE | ID: mdl-33534821
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cardiomiopatia Dilatada / Proteínas Musculares Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: PLoS One Assunto da revista: CIENCIA / MEDICINA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Finlândia País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cardiomiopatia Dilatada / Proteínas Musculares Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: PLoS One Assunto da revista: CIENCIA / MEDICINA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Finlândia País de publicação: Estados Unidos