Article
GATA4 loss-of-function mutations underlie familial tetralogy of fallot.
Human mutation - 1 Dec 2013
Yang Yi-Qing, Gharibeh Lara, Li Ruo-Gu, Xin Yuan-Feng, Wang Juan, Liu Zhong-Min, Qiu Xing-Biao, Xu Ying-Jia, Xu Lei, Qu Xin-Kai, Liu Xu, Fang Wei-Yi, Huang Ri-Tai, Xue Song, Nemer Georges
Abstract excerpt
Tetralogy of Fallot (TOF) represents the most common form of cyanotic congenital heart disease and accounts for significant morbidity and mortality in humans. Emerging evidence has implicated genetic defects in the pathogenesis of TOF. However, TOF is genetically heterogeneous and the genetic basis for TOF in most patients remains unclear. In this study, the GATA4 gene were sequenced in 52 probands with familial...
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