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Mutations in TRIM63 cause an autosomal-recessive form of hypertrophic cardiomyopathy.
Salazar-Mendiguchía, Joel; Ochoa, Juan Pablo; Palomino-Doza, Julian; Domínguez, Fernando; Díez-López, Carles; Akhtar, Mohammed; Ramiro-León, Soraya; Clemente, María M; Pérez-Cejas, Antonia; Robledo, María; Gómez-Díaz, Iria; Peña-Peña, María Luisa; Climent, Vicente; Salmerón-Martínez, Francisco; Hernández, Celestino; García-Granja, Pablo E; Mogollón, M Victoria; Cárdenas-Reyes, Ivonne; Cicerchia, Marcos; García-Giustiniani, Diego; Lamounier, Arsonval; Gil-Fournier, Belén; Díaz-Flores, Felícitas; Salguero, Rafael; Santomé, Luis; Syrris, Petros; Olivé, Montse; García-Pavía, Pablo; Ortiz-Genga, Martín; Elliott, Perry M; Monserrat, Lorenzo.
Afiliação
  • Salazar-Mendiguchía J; Cardiovascular Genetics, Health in Code, A Coruna, Spain joel.salazar@healthincode.com.
  • Ochoa JP; Genetics Department, Universitat Autonoma de Barcelona, Barcelona, Spain.
  • Palomino-Doza J; Clinical Genetics Department, Hospital Universitario de Bellvitge, Barcelona, Spain.
  • Domínguez F; Cardiovascular Genetics, Health in Code, A Coruna, Spain.
  • Díez-López C; Inherited Cardiac Diseases Unit. Cardiology Department, Hospital Universitario 12 de Octubre, Madrid, Spain.
  • Akhtar M; Centro de Investigación Biomédica en Red en Enfermedades Cardiovasculares (CIBERCV), Instituto Carlos III, Madrid, Spain.
  • Ramiro-León S; Centro de Investigación Biomédica en Red en Enfermedades Cardiovasculares (CIBERCV), Instituto Carlos III, Madrid, Spain.
  • Clemente MM; Inherited Cardiac Diseases Unit. Cardiology Department, Hospital Universitario Puerta de Hierro, Madrid, Spain.
  • Pérez-Cejas A; Heart Failure and Cardiomyopathy Unit. Cardiology Department, Hospital Universitario de Bellvitge, Barcelona, Spain.
  • Robledo M; Centre for Inherited Cardiac Diseases. Barts Heart Centre, Saint Bartholomew's Hospital, London, United Kingdom.
  • Gómez-Díaz I; Genetics Department, Hospital Universitario de Getafe, Getafe, Spain.
  • Peña-Peña ML; Cardiology Department, Hospital Virgen del Puerto, Plasencia, Spain.
  • Climent V; Molecular Diagnostics Unit, Hospital Universitario de Canarias, Santa Cruz de Tenerife, Spain.
  • Salmerón-Martínez F; Familial Cardiomyopathy Unit. Cardiology Department, Hospital Txagorritxu, Vitoria-Gasteiz, Spain.
  • Hernández C; Cardiovascular Genetics, Health in Code, A Coruna, Spain.
  • García-Granja PE; Cardiology Department, Hospital Universitario Virgen del Rocío, Seville, Spain.
  • Mogollón MV; Cardiology Department, Hospital Universitario General de Alicante, Alicante, Spain.
  • Cárdenas-Reyes I; Cardiology Department, Complejo Hospitalario Universitario de Albacete, Albacete, Spain.
  • Cicerchia M; Cardiology Department, Hospital Universitario Nuestra Señora de la Candelaria, Santa Cruz de Tenerife, Spain.
  • García-Giustiniani D; Cardiology Department. Cardiac Sciences Institute (ICICOR), Hospital Clínico Universitario de Valladolid, Valladolid, Spain.
  • Lamounier A; Cardiology Department, Hospital San Pedro de Alcántara, Cáceres, Spain.
  • Gil-Fournier B; Cardiovascular Genetics, Health in Code, A Coruna, Spain.
  • Díaz-Flores F; Cardiovascular Genetics, Health in Code, A Coruna, Spain.
  • Salguero R; Cardiovascular Genetics, Health in Code, A Coruna, Spain.
  • Santomé L; Cardiovascular Genetics, Health in Code, A Coruna, Spain.
  • Syrris P; Genetics Department, Hospital Universitario de Getafe, Getafe, Spain.
  • Olivé M; Molecular Diagnostics Unit, Hospital Universitario de Canarias, Santa Cruz de Tenerife, Spain.
  • García-Pavía P; Inherited Cardiac Diseases Unit. Cardiology Department, Hospital Universitario 12 de Octubre, Madrid, Spain.
  • Ortiz-Genga M; Cardiovascular Genetics, Health in Code, A Coruna, Spain.
  • Elliott PM; Institute of Cardiovascular Science, University College London, London, UK.
  • Monserrat L; Department of Pathology and Neuromuscular Unit. IDIBELL, Hospital Universitario de Bellvitge, Barcelona, Spain.
Heart ; 106(17): 1342-1348, 2020 09.
Article em En | MEDLINE | ID: mdl-32451364
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cardiomiopatia Hipertrófica / Hipertrofia Ventricular Esquerda / Disfunção Ventricular Esquerda / Ubiquitina-Proteína Ligases / Proteínas com Motivo Tripartido / Proteínas Musculares / Mutação Tipo de estudo: Clinical_trials / Diagnostic_studies / Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Aged80 / Child / Female / Humans / Male / Middle aged País/Região como assunto: Europa Idioma: En Revista: Heart Assunto da revista: CARDIOLOGIA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Espanha
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cardiomiopatia Hipertrófica / Hipertrofia Ventricular Esquerda / Disfunção Ventricular Esquerda / Ubiquitina-Proteína Ligases / Proteínas com Motivo Tripartido / Proteínas Musculares / Mutação Tipo de estudo: Clinical_trials / Diagnostic_studies / Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Aged80 / Child / Female / Humans / Male / Middle aged País/Região como assunto: Europa Idioma: En Revista: Heart Assunto da revista: CARDIOLOGIA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Espanha