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The «Amish¼ NM_000256.3:c.3330+2T>G splice variant in MYBPC3 associated with hypertrophic cardiomyopathy is an ancient Swiss mutation.
Redin, Claire; Pavlidou, Despina Christina; Bhuiyan, Zahurul; Porretta, Alessandra Pia; Monney, Pierre; Bedoni, Nicola; Maurer, Fabienne; Sekarski, Nicole; Atallah, Isis; Émeline, Davoine; Jeanrenaud, Xavier; Pruvot, Etienne; Fellay, Jacques; Superti-Furga, Andrea.
Afiliação
  • Redin C; Precision Medicine Unit, Lausanne University Hospital (CHUV), Lausanne, 1011, Switzerland. Electronic address: claire.redin@medigenome.ch.
  • Pavlidou DC; Division of Genetic Medicine, Lausanne University Hospital (CHUV), Lausanne, 1011, Switzerland; University of Lausanne, Lausanne, 1011, Switzerland.
  • Bhuiyan Z; Division of Genetic Medicine, Lausanne University Hospital (CHUV), Lausanne, 1011, Switzerland; University of Lausanne, Lausanne, 1011, Switzerland.
  • Porretta AP; Service of Cardiology, Lausanne University Hospital (CHUV), Lausanne, 1011, Switzerland; Department of Clinical-Surgical Diagnostic and Pediatric Sciences, University of Pavia, Pavia, Italy.
  • Monney P; University of Lausanne, Lausanne, 1011, Switzerland; Service of Cardiology, Lausanne University Hospital (CHUV), Lausanne, 1011, Switzerland.
  • Bedoni N; Division of Genetic Medicine, Lausanne University Hospital (CHUV), Lausanne, 1011, Switzerland; University of Lausanne, Lausanne, 1011, Switzerland.
  • Maurer F; Division of Genetic Medicine, Lausanne University Hospital (CHUV), Lausanne, 1011, Switzerland; University of Lausanne, Lausanne, 1011, Switzerland.
  • Sekarski N; Pediatric Cardiology, Women-Mother-Child Department, Lausanne University Hospital (CHUV), Lausanne, 1011, Switzerland.
  • Atallah I; Division of Genetic Medicine, Lausanne University Hospital (CHUV), Lausanne, 1011, Switzerland; University of Lausanne, Lausanne, 1011, Switzerland.
  • Émeline D; Division of Genetic Medicine, Lausanne University Hospital (CHUV), Lausanne, 1011, Switzerland; University of Lausanne, Lausanne, 1011, Switzerland.
  • Jeanrenaud X; Service of Cardiology, Lausanne University Hospital (CHUV), Lausanne, 1011, Switzerland.
  • Pruvot E; Service of Cardiology, Lausanne University Hospital (CHUV), Lausanne, 1011, Switzerland.
  • Fellay J; Precision Medicine Unit, Lausanne University Hospital (CHUV), Lausanne, 1011, Switzerland.
  • Superti-Furga A; Division of Genetic Medicine, Lausanne University Hospital (CHUV), Lausanne, 1011, Switzerland; University of Lausanne, Lausanne, 1011, Switzerland. Electronic address: Andrea.Superti-Furga@chuv.ch.
Eur J Med Genet ; 65(12): 104627, 2022 Dec.
Article em En | MEDLINE | ID: mdl-36162733
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cardiomiopatia Hipertrófica / Proteínas de Transporte Tipo de estudo: Risk_factors_studies Limite: Adult / Humans / Newborn País/Região como assunto: Europa Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cardiomiopatia Hipertrófica / Proteínas de Transporte Tipo de estudo: Risk_factors_studies Limite: Adult / Humans / Newborn País/Região como assunto: Europa Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article