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Stop-codon and C-terminal nonsense mutations are associated with a lower risk of cardiac events in patients with long QT syndrome type 1.
Ruwald, Martin H; Xu Parks, Xiaorong; Moss, Arthur J; Zareba, Wojciech; Baman, Jayson; McNitt, Scott; Kanters, Jorgen K; Shimizu, Wataru; Wilde, Arthur A; Jons, Christian; Lopes, Coeli M.
Afiliación
  • Ruwald MH; Heart Research Follow-up Program, Division of Cardiology, University of Rochester Medical Center, Rochester, New York; Department of Cardiology, Gentofte Hospital, Hellerup, Denmark.
  • Xu Parks X; Cardiovascular Research Institute, Department of Medicine, University of Rochester, Rochester, New York.
  • Moss AJ; Heart Research Follow-up Program, Division of Cardiology, University of Rochester Medical Center, Rochester, New York.
  • Zareba W; Heart Research Follow-up Program, Division of Cardiology, University of Rochester Medical Center, Rochester, New York.
  • Baman J; Heart Research Follow-up Program, Division of Cardiology, University of Rochester Medical Center, Rochester, New York.
  • McNitt S; Heart Research Follow-up Program, Division of Cardiology, University of Rochester Medical Center, Rochester, New York.
  • Kanters JK; Department of Cardiology, Gentofte Hospital, Hellerup, Denmark; Laboratory of Experimental Cardiology, Department of Biomedical Sciences, University of Copenhagen, Copenhagen, Denmark.
  • Shimizu W; Department of Cardiovascular Medicine, Nippon Medical School, Tokyo, Japan.
  • Wilde AA; AMC Heart Centre, Department of Clinical and Experimental Cardiology, Academic Medical Centre, Amsterdam, The Netherlands.
  • Jons C; Department of Cardiology, Gentofte Hospital, Hellerup, Denmark.
  • Lopes CM; Cardiovascular Research Institute, Department of Medicine, University of Rochester, Rochester, New York. Electronic address: coeli_lopes@urmc.rochester.edu.
Heart Rhythm ; 13(1): 122-31, 2016 Jan.
Article en En | MEDLINE | ID: mdl-26318259
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Contexto en salud: 2_ODS3 / 6_ODS3_enfermedades_notrasmisibles Problema de salud: 2_muertes_prematuras_enfermedades_notrasmisibles / 6_cardiovascular_diseases / 6_congenital_chromosomal_anomalies Asunto principal: Mutación del Sistema de Lectura / Codón de Terminación / Codón sin Sentido / Mutación Missense / Síndrome de Romano-Ward / Canal de Potasio KCNQ1 Tipo de estudio: Diagnostic_studies / Etiology_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Female / Humans / Male Idioma: En Revista: Heart Rhythm Año: 2016 Tipo del documento: Article País de afiliación: Dinamarca
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Contexto en salud: 2_ODS3 / 6_ODS3_enfermedades_notrasmisibles Problema de salud: 2_muertes_prematuras_enfermedades_notrasmisibles / 6_cardiovascular_diseases / 6_congenital_chromosomal_anomalies Asunto principal: Mutación del Sistema de Lectura / Codón de Terminación / Codón sin Sentido / Mutación Missense / Síndrome de Romano-Ward / Canal de Potasio KCNQ1 Tipo de estudio: Diagnostic_studies / Etiology_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Female / Humans / Male Idioma: En Revista: Heart Rhythm Año: 2016 Tipo del documento: Article País de afiliación: Dinamarca