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

ConclusionTaken 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 ofNFATC1, and provide some references or suggestions for genetic diagnosis of tricuspid atresia.

Source: Molecular Genetics & Genomic Medicine - August 7, 2021 Category: Genetics & Stem Cells Authors: Bojian Li, Tingting Li, Tian Pu, Chunjie Liu, Sun Chen, Kun Sun, Rang Xu Tags: ORIGINAL ARTICLE Source Type: research