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MESP1 loss‑of‑function mutation contributes to double outlet right ventricle.

Mol Med Rep. 2016-09; 
ZhangMin,LiFu-Xing,LiuXing-Yuan,HuangRi-Tai,XueSong,YangXiao-Xiao,LiYan-Jie,LiuHua,ShiHong-Yu,PanXin,QiuXing-Biao,YangYi-
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Mutagenesis Services … Previously unreported variants have been submitted to dbSNP (http://www.ncbi.nlm.nih.gov/ projects/SNP/). Site‐Directed Mutagenesis. A clone containing the mRNA sequence of MESP1 (NM_018670.3) was purchased from GenScript (Piscataway, NJ) … Get A Quote

摘要

Congenital heart disease (CHD) is the most common form of birth defect in humans, and remains a leading non‑infectious cause of infant mortality worldwide. An increasing number of studies have demonstrated that genetic defects serve a pivotal role in the pathogenesis of CHD, and mutations in >60 genes have been causally associated with CHD. CHD is a heterogeneous disease and the genetic basis of CHD in the majority of patients remains poorly understood. In the present study, the coding exons and flanking introns of the mesoderm posterior 1 (MESP1) gene, which encodes a basic helix‑loop‑helix transcription factor required for normal cardiovascular development, were sequenced in 178 unrelated pati... More

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