Article
Genetic analysis of the TBX1 gene promoter in ventricular septal defects.
Molecular and cellular biochemistry - 1 Nov 2012
Wang Haihua, Chen Dongfeng, Ma Liming, Meng Haihong, Liu Yumei, Xie Wen, Pang Shuchao, Yan Bo
Abstract excerpt
Congenital heart disease (CHD) is the most common birth defects in humans. The genetic causes for CHD remain largely unknown. T-box transcription factor 1 (TBX1), a dosage-sensitive regulator, plays a critical role in the heart development. Mutations in the coding regions of TBX1 gene have been associated to 22q11 deletion syndrome with cardiac defects and isolated CHD cases, including ventricular septal defect...
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