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

OBJECTIVE: The 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 mut...

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Detalles Bibliográficos
Autores principales: Adalsteinsdottir, Berglind, Burke, Michael, Maron, Barry J, Danielsen, Ragnar, Lopez, Begoña, Diez, Javier, Jarolim, Petr, Seidman, Jonathan, Seidman, Christine E., Ho, Carolyn Y, Gunnarsson, Gunnar Th
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7174027/
https://www.ncbi.nlm.nih.gov/pubmed/32341788
http://dx.doi.org/10.1136/openhrt-2019-001220