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Novel frameshift variant in MYL2 reveals molecular differences between dominant and recessive forms of hypertrophic cardiomyopathy.
Manivannan, Sathiya N; Darouich, Sihem; Masmoudi, Aida; Gordon, David; Zender, Gloria; Han, Zhe; Fitzgerald-Butt, Sara; White, Peter; McBride, Kim L; Kharrat, Maher; Garg, Vidu.
Afiliación
  • Manivannan SN; Center for Cardiovascular Research, Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, Ohio, United States of America.
  • Darouich S; Heart Center, Nationwide Children's Hospital, Columbus, Ohio, United States of America.
  • Masmoudi A; University of Tunis El Manar, Faculty of Medicine of Tunis, LR99ES10 Laboratory of Human Genetics, Tunis, Tunisia.
  • Gordon D; University of Tunis El Manar, Faculty of Medicine of Tunis, Department of Embryo-Fetopathology, Maternity and Neonatology Center, Tunis, Tunisia.
  • Zender G; Institute for Genomic Medicine at Nationwide Children's Hospital, Columbus, Ohio, United States of America.
  • Han Z; Center for Cardiovascular Research, Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, Ohio, United States of America.
  • Fitzgerald-Butt S; Department of Medicine, University of Maryland School of Medicine, Baltimore, Maryland, United States of America.
  • White P; Center for Cardiovascular Research, Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, Ohio, United States of America.
  • McBride KL; Heart Center, Nationwide Children's Hospital, Columbus, Ohio, United States of America.
  • Kharrat M; Department of Pediatrics, The Ohio State University, Columbus, Ohio, United States of America.
  • Garg V; Institute for Genomic Medicine at Nationwide Children's Hospital, Columbus, Ohio, United States of America.
PLoS Genet ; 16(5): e1008639, 2020 05.
Article en En | MEDLINE | ID: mdl-32453731

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Cardiomiopatía Hipertrófica / Familia / Mutación del Sistema de Lectura / Cadenas Ligeras de Miosina / Miosinas Cardíacas Tipo de estudio: Prognostic_studies Límite: Adult / Animals / Female / Humans / Infant / Male / Newborn Idioma: En Revista: PLoS Genet Asunto de la revista: GENETICA Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Cardiomiopatía Hipertrófica / Familia / Mutación del Sistema de Lectura / Cadenas Ligeras de Miosina / Miosinas Cardíacas Tipo de estudio: Prognostic_studies Límite: Adult / Animals / Female / Humans / Infant / Male / Newborn Idioma: En Revista: PLoS Genet Asunto de la revista: GENETICA Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos