完全性肺静脉异位引流潜在致病基因PDX1突变对其基因功能的影响

冯炜琦, 张琪, 吴逸卓, 鲁亚南, 于昱

Effect of potential pathogenic gene PDX1 variants of total anomalous pulmonary venous connection on its gene function

FENG Weiqi, ZHANG Qi, WU Yizhuo, LU Yanan, YU Yu

表3 2例患儿的 PDX1 的突变位点的特征

Tab 3 Characteristics of mutation sites in PDX1 in the two TAPVC children

Patient ID Gender Age/month Location in age Base change Amino change SIFT Mutation taster PolyPhen-2 A03 Male 2 Exon237 C237A P33T 0 (D) DC 0.996 (D) B11 Female 4 Exon237 C237G P33A 0 (D) DC 0.997 (D)