• 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一个氨基酸变化突变。

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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突变缺失错误重组

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

    突变成编码一种氨基酸的密码

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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1例患者发现第11外显子1346 (G>C)的错义突变,为纯合突变;

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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基因缺失突变错义突变引起该患者临床症状特异突变。

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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原发性高血压相关性。

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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家庭成员,鉴定KCNQ1基因中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离子通道正常通道静止中恢复更快,而读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离子通道正常通道静止中恢复更快,而读突变使钠离子通道失去功能。

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