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High incidence of functional ion-channel abnormalities in a consecutive Long QT cohort with novel missense genetic variants of unknown significance

The Long QT syndrome (LQTS) is a disorder characterized by a prolongation of the QT interval and a propensity to ventricular tachyarrhythmias, which may lead to syncope, cardiac arrest, or sudden death. Our objective was to (1) determine the incidence of variants with unknown significance (VUS) in a...

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Detalles Bibliográficos
Autores principales: Steffensen, Annette Buur, Refaat, Marwan M., David, Jens-Peter, Mujezinovic, Amer, Calloe, Kirstine, Wojciak, Julianne, Nussbaum, Robert L., Scheinman, Melvin M., Schmitt, Nicole
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4464365/
https://www.ncbi.nlm.nih.gov/pubmed/26066609
http://dx.doi.org/10.1038/srep10009