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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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GATA4突变导致人类先天性心脏缺陷,并显示与TBX5的相互作用

Vidu Garg1, Irfan S Kathiriya, Robert Barnes

  • 1Department of Pediatrics, University of Texas Southwestern Medical Center at Dallas, 6000 Harry Hines Boulevard, Rm. NA8.124, Dallas, Texas 75390-9148, USA. Vidu.Garg@UTSouthwestern.edu

Nature
|July 8, 2003
PubMed
概括

在GATA4的遗传突变导致先天性心脏缺陷 (CHDs),特别是心脏隔膜缺陷. 这些突变会损害GATA4的功能.

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