在200名正常对照中未发现此错义突变。
This variation was not found in 200 unrelated control subjects.
目的肾素基因错义突变与原发性高血压的相关性。
Objective To investigate whether there are as sociations between missense mutation of renin gene and essential hypertension (EH).
错义突变引起蛋白质中一个氨基酸变化的点突变。
Missense mutation a point mutation that causes a change in one amino acid of a protein.
其中重点介绍了基于序列特征和基于结构特征的有害错义snp预测方法。
Special attention has been drawn on the deleterious non-synonymous SNPs prediction based on sequence features and structure features.
结论COL7A1基因的缺失突变和错义突变引起该患者临床症状的特异突变。
The deletion mutation and missense mutation of COL7A1 gene result in the specific mutation in patients with clinical symptoms.
多种因素可以引起DNA损伤而最终导致基因产生错义突变、缺失或错误重组。
DNA damage caused by many factors may lead to missense mutation, deletion or illegal recombination.
结果在1例患者中发现第11外显子的1346 （G>C）的错义突变，为一种纯合突变；
Results A missense mutation of 1346(G>C) in exon 11, which was a homozygotic mutation, was identified in one patient;
电生理研究显示含有错义突变的钠离子通道比正常通道从静止中恢复的更快，而读码突变使钠离子通道失去功能。
We show that sodium channels with the missense mutation recover from inactivation more rapidly than normal and that the frameshift mutation causes the sodium channel to be non-functional.
结果显示，VEGFASODN对U937细胞的VEGF的表达有明显的抑制作用，与错义序列组和空白对照组相比有显著差异（P<0 .0 5 ） ；
The result showed that VEGF ASODN had obviously inhibitive effect on expression of VEGF in U937 cell, as compared with scrambled sequence and negative control (P<0.05).
结果显示，VEGFASODN对U937细胞的VEGF的表达有明显的抑制作用，与错义序列组和空白对照组相比有显著差异（P<0 .0 5 ） ；
The result showed that VEGF ASODN had obviously inhibitive effect on expression of VEGF in U937 cell, as compared with scrambled sequence and negative control (P<0.05).
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