A Premature Termination Codon Mutation in MYBPC3 Causes Hypertrophic Cardiomyopathy via Chronic Activation of Nonsense-Mediated Decay

Published on Feb 5, 2019in Circulation23.054
· DOI :10.1161/circulationaha.118.034624
Timon Seeger10
Estimated H-index: 10
(Stanford University),
Rajani Shrestha4
Estimated H-index: 4
(Stanford University)
+ 16 AuthorsJoseph C. Wu91
Estimated H-index: 91
(Stanford University)
Background: Hypertrophic cardiomyopathy (HCM) is frequently caused by mutations in myosin-binding protein C3 (MYBPC3) resulting in a premature termination codon (PTC). The underlying mechanisms of ...
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