A pathogenic nonsense mutation (c.1522C>T) of the MYBPC3 gene is implicated with hypertrophic cardiomyopathy

A pathogenic nonsense mutation (c.1522C>T) of the MYBPC3 gene is implicated with hypertrophic cardiomyopathy

Abstract Hypertrophic cardiomyopathy (HCM), a genetically and clinically heterogeneous cardiomyopathy, is commonly caused by mutations in the MYBPC3 gene or other various sarcomeric genes. HCM patients carrying sarcomeric gene mutations may experience an asymptomatic period at early stage but still...

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Bibliographic Details
Main Authors: Erru Ni, Tao Wang, Xuan Zhang, Huabin Xie
Format: Article
Language:English
Published: Wiley 2023-08-01
Series:ESC Heart Failure
Subjects:
MYBPC3
c.1522C>T
Exon 16
Hypertrophic cardiomyopathy
Nonsense mutation
WES
Online Access:https://doi.org/10.1002/ehf2.14424

Internet

https://doi.org/10.1002/ehf2.14424

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