Haploinsufficiency of MYBPC3 Exacerbates the Development of Hypertrophic Cardiomyopathy in Heterozygous Mice

Mutations in MYBPC3, the gene encoding cardiac myosin binding protein-C (cMyBP-C), account for ~40% of hypertrophic cardiomyopathy (HCM) cases. Most pathological MYBPC3 mutations encode truncated protein products not found in tissue. Reduced protein levels occur in symptomatic heterozygous human HCM...

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Pubblicato in:J Mol Cell Cardiol
Autori principali: Barefield, David, Kumar, Mohit, Gorham, Joshua, Seidman, Jonathan G., Seidman, Christine E., de Tombe, Pieter P., Sadayappan, Sakthivel
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2014
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4642280/
https://ncbi.nlm.nih.gov/pubmed/25463273
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.yjmcc.2014.11.018
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