Missense mutation a point mutation that causes a change in one amino acid of a protein.

错义突变引起蛋白质中一个氨基酸变化的点突变。

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DNA damage caused by many factors may lead to missense mutation, deletion or illegal recombination.

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。

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Missense mutation — a mutation that changes a codon specific for one amino acid to specify another amino acid.

突变成编码另一种氨基酸的密码子。

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Results A missense mutation of 1346(G>C) in exon 11, which was a homozygotic mutation, was identified in one patient;

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；

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The deletion mutation and missense mutation of COL7A1 gene result in the specific mutation in patients with clinical symptoms.

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。

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Objective To investigate whether there are as sociations between missense mutation of renin gene and essential hypertension (EH).

目的肾素基因错义突变与原发性高血压的相关性。

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Methods We screened a family affected by long-QT syndrome type 1 and identified an autosomal dominant missense mutation (R190Q) in the KCNQ1 gene.

方法：筛选出患长qt综合征1型的家庭成员，并鉴定KCNQ1基因中一个常染色体显性遗传突变基因(R190 Q)。

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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.

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。

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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.

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。

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