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移码突变和异义突变都能被基因内抑制基因所抑制。Both frameshift and missense mutations can be suppressed by intragenic suppressors.

移码突变和异义突变都能被基因内抑制基因所抑制。Both frameshift and missense mutations can be suppressed by intragenic suppressors.

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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.

结论在中国人肾上腺脑白质营养不良患者中发现一个新的ABCD1基因突变,即G343V突变。Conclusion A novel missense mutation, G343V, was identified in the ABCD1 gene of a Chinese patient with ALD.

突变成编码另一种氨基酸的密码子。Missense mutation --- A mutation that changes a codon specific for one amino acid to specify another amino acid.

十位患者分子水平的研究揭示神经胶质酸性蛋白有六个异常的错义突变和三个先前已报道的改变。In ten patients, molecular studies revealed six novel missense mutations and three previously reported changes in GFAP.

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.

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突变类型包括移码突变、无义突变、剪接异常、框架内插入或缺失以及错义突变。There was a wide spectrum of mutation type including frame shift, nonsense, splice site mutation, in frame insertion or deletion and missense mutations.

牦牛序列与小尾寒羊序列有5处错义突变,错义突变位点数多于中国西门塔尔牛与小尾寒羊序列间的错义突变位点数。There were 2 missense mutations between yak and Chinese Simmental, 5 between yak and mall-tail Han sheep, more than that between yak and Chinese Simmental.

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.

错义突变导致的第660位点氨基酸替换,牦牛和中国西门塔尔牛以可磷酸化的丝氨酸替代了小尾寒羊的苯丙氨酸。Missense mutation led to amino acid substitute at 660th locus, namely, serine which could be phosphorylated of yak and Chinese Simmental substitute to phenylalanine of small-tail Han sheep.