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Classification and correlation of RYR2 missense variants in individuals with catecholaminergic polymorphic ventricular tachycardia reveals phenotypic relationships.
Olubando, Damilola; Hopton, Claire; Eden, James; Caswell, Richard; Lowri Thomas, N; Roberts, Stephen A; Morris-Rosendahl, Deborah; Venetucci, Luigi; Newman, William G.
Afiliação
  • Olubando D; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, M13 9WL, UK.
  • Hopton C; Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Human Sciences, University of Manchester, Manchester, UK.
  • Eden J; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, M13 9WL, UK.
  • Caswell R; Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Human Sciences, University of Manchester, Manchester, UK.
  • Lowri Thomas N; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, M13 9WL, UK.
  • Roberts SA; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
  • Morris-Rosendahl D; School of Pharmacy and Pharmaceutical Sciences, Redwood Building, University of Cardiff, Cardiff, CF10 3NB, UK.
  • Venetucci L; Division of Population Health, Health Services Research and Primary Care, University of Manchester, Manchester, UK.
  • Newman WG; Clinical Genetics and Genomics, Royal Brompton and Harefield NHS Foundation Trust, London, UK.
J Hum Genet ; 65(6): 531-539, 2020 Jun.
Article em En | MEDLINE | ID: mdl-32152366
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Morte Súbita Cardíaca / Taquicardia Ventricular / Canal de Liberação de Cálcio do Receptor de Rianodina / Predisposição Genética para Doença Tipo de estudo: Prognostic_studies Limite: Female / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Morte Súbita Cardíaca / Taquicardia Ventricular / Canal de Liberação de Cálcio do Receptor de Rianodina / Predisposição Genética para Doença Tipo de estudo: Prognostic_studies Limite: Female / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article