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MYBPC3 truncation mutations enhance actomyosin contractile mechanics in human hypertrophic cardiomyopathy

RATIONALE: Truncation mutations in the MYBPC3 gene, encoding for cardiac myosin-binding protein C (MyBP-C), are the leading cause of hypertrophic cardiomyopathy (HCM). Whole heart, fiber and molecular studies demonstrate that MyBP-C is a potent modulator of cardiac contractility, but how these mutat...

Täydet tiedot

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Bibliografiset tiedot
Julkaisussa:J Mol Cell Cardiol
Päätekijät: O’Lea ry, Thomas S., Snyder, Julia, Sadayappan, Sakthivel, Day, Sharlene M., Previs, Michael J.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 2018
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC6592272/
https://ncbi.nlm.nih.gov/pubmed/30550750
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.yjmcc.2018.12.003
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