Effects of MYBPC3 loss-of-function mutations preceding hypertrophic cardiomyopathy

Mutations in cardiac myosin binding protein C (MyBP-C, encoded by MYBPC3) are the most common cause of hypertrophic cardiomyopathy (HCM). Most MYBPC3 mutations result in premature termination codons (PTCs) that cause RNA degradation and a reduction of MyBP-C in HCM patient hearts. However, a reducti...

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Pubblicato in:JCI Insight
Autori principali: Helms, Adam S., Tang, Vi T., O’Leary, Thomas S., Friedline, Sabrina, Wauchope, Mick, Arora, Akul, Wasserman, Aaron H., Smith, Eric D., Lee, Lap Man, Wen, Xiaoquan W., Shavit, Jordan A., Liu, Allen P., Previs, Michael J., Day, Sharlene M.
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society for Clinical Investigation 2020
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7098724/
https://ncbi.nlm.nih.gov/pubmed/31877118
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/jci.insight.133782
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