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MYBPC3's alternate ending: consequences and therapeutic implications of a highly prevalent 25 bp deletion mutation

Hypertrophic cardiomyopathy (HCM) is the most common form of inherited cardiac disease and the leading cause of sudden cardiac death in young people. HCM is caused by mutations in genes encoding contractile proteins. Cardiac myosin binding protein-C (cMyBP-C) is a thick filament contractile protein...

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Autors principals: Kuster, Diederik W. D., Sadayappan, Sakthivel
Format: Artigo
Idioma:Inglês
Publicat: 2013
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3946836/
https://ncbi.nlm.nih.gov/pubmed/24327208
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00424-013-1417-7
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