Genetic analysis of monoallelic double MYH7 mutations responsible for familial hypertrophic cardiomyopathy.

Wang, Bo; Wang, Jing; Wang, Li-Feng; Yang, Fan; Xu, Lei; Li, Wen-Xia; He, Yang; Zuo, Lei; Yang, Qian-Li; Shao, Hong; Hu, Dan; Liu, Li-Wen

Wang, Bo; Wang, Jing; Wang, Li-Feng; Yang, Fan; Xu, Lei; Li, Wen-Xia; He, Yang; Zuo, Lei; Yang, Qian-Li; Shao, Hong; Hu, Dan; Liu, Li-Wen.

Afiliación

Wang B; Department of Ultrasound, Xijing Hospital, Fourth Military Medical University, Xi'an, Shaanxi 710032, P.R. China.
Wang J; Department of Ultrasound, Xijing Hospital, Fourth Military Medical University, Xi'an, Shaanxi 710032, P.R. China.
Wang LF; Department of Ultrasound, Xijing Hospital, Fourth Military Medical University, Xi'an, Shaanxi 710032, P.R. China.
Yang F; Department of Ultrasound, Xijing Hospital, Fourth Military Medical University, Xi'an, Shaanxi 710032, P.R. China.
Xu L; Department of Ultrasound, Xijing Hospital, Fourth Military Medical University, Xi'an, Shaanxi 710032, P.R. China.
Li WX; Department of Ultrasound, Xijing Hospital, Fourth Military Medical University, Xi'an, Shaanxi 710032, P.R. China.
He Y; Department of General Surgery, Xi'an Medical University, Xi'an, Shaanxi 710021, P.R. China.
Zuo L; Department of Ultrasound, Xijing Hospital, Fourth Military Medical University, Xi'an, Shaanxi 710032, P.R. China.
Yang QL; Department of Ultrasound, Xijing Hospital, Fourth Military Medical University, Xi'an, Shaanxi 710032, P.R. China.
Shao H; Department of Ultrasound, Xijing Hospital, Fourth Military Medical University, Xi'an, Shaanxi 710032, P.R. China.
Hu D; Department of Cardiology and Cardiovascular Research Institute, Renmin Hospital of Wuhan University, Wuhan, Hubei 430060, P.R. China.
Liu LW; Department of Ultrasound, Xijing Hospital, Fourth Military Medical University, Xi'an, Shaanxi 710032, P.R. China.

Mol Med Rep ; 20(6): 5229-5238, 2019 Dec.

Article en En | MEDLINE | ID: mdl-31638223

Asunto(s)

Alelos; Miosinas Cardíacas/genética; Cardiomiopatía Hipertrófica Familiar/diagnóstico; Cardiomiopatía Hipertrófica Familiar/genética; Estudios de Asociación Genética; Predisposición Genética a la Enfermedad; Mutación; Cadenas Pesadas de Miosina/genética; Adolescente; Adulto; Sustitución de Aminoácidos; Miosinas Cardíacas/química; Cardiomiopatía Hipertrófica Familiar/mortalidad; Niño; Preescolar; Toma de Decisiones Clínicas; Análisis Mutacional de ADN; Manejo de la Enfermedad; Ecocardiografía; Electrocardiografía; Femenino; Pruebas Genéticas; Genotipo; Humanos; Masculino; Persona de Mediana Edad; Modelos Moleculares; Cadenas Pesadas de Miosina/química; Linaje; Pronóstico; Conformación Proteica; Adulto Joven

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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Cadenas Pesadas de Miosina / Predisposición Genética a la Enfermedad / Cardiomiopatía Hipertrófica Familiar / Miosinas Cardíacas / Alelos / Estudios de Asociación Genética / Mutación Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: Mol Med Rep Año: 2019 Tipo del documento: Article

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