Article
Spectrum of heart disease associated with murine and human GATA4 mutation.
Journal of molecular and cellular cardiology - 1 Dec 2007
Rajagopal Satish K, Ma Qing, Obler Dita, Shen Jie, Manichaikul Ani, Tomita-Mitchell Aoy, Boardman Kari, Briggs Christine, Garg Vidu, Srivastava Deepak, Goldmuntz Elizabeth, Broman Karl W, Benson D Woodrow, Smoot Leslie B, Pu William T
Abstract excerpt
The transcription factor GATA4 is essential for heart morphogenesis. Heterozygous mutation of GATA4 causes familial septal defects. However, the phenotypic spectrum of heterozygous GATA4 mutation is not known. In this study, we defined the cardiac phenotypes that result from heterozygous mutation of murine Gata4. We then asked if GATA4 mutation occurs in humans with these forms of congenital heart disease (CHD)....
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