Genetic and functional analyses detect one pathological NFATC1 mutation in a Chinese tricuspid atresia family.

Bojian LiTingting LiTian PuChunjie LiuSun ChenKun Sun Rang Xu

Published in: Molecular genetics & genomic medicine (2021)

Taken together, the c.964G>A mutation might be pathological and related to the occurrence of disease. Our research tended to deepen the understanding of etiology of tricuspid atresia and gene function of NFATC1, and provide some references or suggestions for genetic diagnosis of tricuspid atresia.

Keyphrases

mitral valve
aortic valve
genome wide
copy number
transcatheter aortic valve replacement
aortic stenosis
risk assessment
dna methylation
ejection fraction
left ventricular
coronary artery disease
gene expression