Article
Mild decrease in TBX20 promoter activity is a potentially protective factor against congenital heart defects in the Han Chinese population.
Scientific reports - 1 Apr 2016
Yu Li-Wei, Wang Feng, Yang Xue-Yan, Sun Shu-Na, Zheng Yu-Fang, Li Bin-Bin, Gui Yong-Hao, Wang Hong-Yan
Abstract excerpt
Congenital heart defects (CHDs) are one of the most common human birth defects worldwide. TBX20 is a crucial transcription factor for the development of embryonic cardiovascular system. Previous studies have demonstrated that mutations in the TBX20 coding region contribute to familial and sporadic CHD occurrence. However, it remains largely unknown whether variants in the TBX20 regulatory region are also related...
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