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Hypertrophic cardiomyopathy in myosin-binding protein C (MYBPC3) Icelandic founder mutation carriers

ObjectiveThe myosin-binding protein C (MYBPC3) c.927-2A>G founder mutation accounts for >90% of sarcomeric hypertrophic cardiomyopathy (HCM) in Iceland. This cross-sectional observational study explored the penetrance and phenotypic burden among carriers of this single, prevalent founder mutat...

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Autores principales: Javier Diez, Begoña López, Barry J Maron, Berglind Adalsteinsdottir, Michael Burke, Ragnar Danielsen, Petr Jarolim, Jonathan Seidman, Christine E. Seidman, Carolyn Y Ho, Gunnar Th Gunnarsson
Formato: Artigo
Lenguaje:Inglês
Publicado: BMJ Publishing Group 2020-06-01
Colección:Open Heart
Acceso en línea:https://openheart.bmj.com/content/7/1/e001220.full
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