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The p.(Cys150Tyr) variant in CSRP3 is associated with late-onset hypertrophic cardiomyopathy in heterozygous individuals.
Salazar-Mendiguchía, Joel; Barriales-Villa, Roberto; Lopes, Luis R; Ochoa, Juan P; Rodríguez-Vilela, Alejandro; Palomino-Doza, Julián; Larrañaga-Moreira, José M; Cicerchia, Marcos; Cárdenas-Reyes, Ivonne; García-Giustiniani, Diego; Brögger, Noël; Fernández, Germán; García, Soledad; Santiago, Lisi; Vélez, Paula; Ortiz-Genga, Martín; Elliott, Perry M; Monserrat, Lorenzo.
Afiliação
  • Salazar-Mendiguchía J; Cardiovascular Genetics Department, Health in Code, A Coruña, Spain; Genetics Department, Universitat Autònoma de Barcelona, Barcelona, Spain; Clinical Genetics Department, Hospital Universitario de Bellvitge, Barcelona, Spain. Electronic address: joel.salazar@healthincode.com.
  • Barriales-Villa R; Inherited Cardiac Diseases Unit, Cardiology Department, Complexo Hospitalario Universitario de A Coruña, A Coruña, Spain; Centro de Investigación Biomédica en Red en Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain.
  • Lopes LR; Inherited Cardiac Disease Unit, Barts Heart Centre, Saint Bartholomew's Hospital, London, United Kingdom; Institute for Cardiovascular Science, University College London, London, United Kingdom.
  • Ochoa JP; Cardiovascular Genetics Department, Health in Code, A Coruña, Spain.
  • Rodríguez-Vilela A; Cardiology Department, Complexo Hospitalario Universitario de Ferrol, Ferrol, Spain.
  • Palomino-Doza J; Centro de Investigación Biomédica en Red en Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain; Inherited Cardiovascular Diseases Unit, Cardiology Department, Hospital Universitario 12 de octubre, Madrid, Spain.
  • Larrañaga-Moreira JM; Inherited Cardiac Diseases Unit, Cardiology Department, Complexo Hospitalario Universitario de A Coruña, A Coruña, Spain.
  • Cicerchia M; Cardiovascular Genetics Department, Health in Code, A Coruña, Spain.
  • Cárdenas-Reyes I; Cardiovascular Genetics Department, Health in Code, A Coruña, Spain.
  • García-Giustiniani D; Cardiovascular Genetics Department, Health in Code, A Coruña, Spain.
  • Brögger N; Cardiovascular Genetics Department, Health in Code, A Coruña, Spain.
  • Fernández G; Cardiovascular Genetics Department, Health in Code, A Coruña, Spain.
  • García S; Cardiovascular Genetics Department, Health in Code, A Coruña, Spain.
  • Santiago L; Cardiovascular Genetics Department, Health in Code, A Coruña, Spain.
  • Vélez P; Cardiovascular Genetics Department, Health in Code, A Coruña, Spain.
  • Ortiz-Genga M; Cardiovascular Genetics Department, Health in Code, A Coruña, Spain.
  • Elliott PM; Inherited Cardiac Disease Unit, Barts Heart Centre, Saint Bartholomew's Hospital, London, United Kingdom; Institute for Cardiovascular Science, University College London, London, United Kingdom.
  • Monserrat L; Cardiovascular Genetics Department, Health in Code, A Coruña, Spain.
Eur J Med Genet ; 63(12): 104079, 2020 Dec.
Article em En | MEDLINE | ID: mdl-33035702
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cardiomiopatia Hipertrófica / Penetrância / Proteínas com Domínio LIM / Proteínas Musculares Tipo de estudo: Risk_factors_studies Limite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cardiomiopatia Hipertrófica / Penetrância / Proteínas com Domínio LIM / Proteínas Musculares Tipo de estudo: Risk_factors_studies Limite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2020 Tipo de documento: Article