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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Detalhes bibliográficos
Publicado no:JCI Insight
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2020
Assuntos:
Research Article
Acesso em linha: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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