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Results 21.9 % of the CMT pedigrees had mutations in the Cx 32, MPZ and PMP 22 genes.

结果 21.9%的CMT家系患者有Cx32 、 MPZ和 PMP22基因的突变.

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Such genetic errors, or mutations as they are called, would die out.

这些基因错误(通常叫做突变)会自行消失.

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Objective To investigate the clinical characteristics and GCHgene mutations in patients with dopa-responsive dystonia ( DRD ).

目的探讨多巴反应性肌张力障碍 ( DRD ) 临床及GTP环 化水解酶(GCH)基因突变特点.

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The most frequent rpoB gene mutations sites are Leu-531 ( 6 isolates , CAC → TAC ) , Tyr-526 ( l isolate , GAC → GTC ) and Val-516 ( 7 isolate, CAC → TAC ) .

19株 SSCP 阴性耐药株中经测序6株在531位密码子TCG→ TTG, 1株526位密码子CAC→ TAC,7株发生在516位密码子GAC→ GTC, 5株未改变.

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Introduction: About 30 % of inherited genetic disorders in humans result from premature termination codon mutations.

前言: 约30%的人类遗传性疾病起源于过早出现的终止密码子突变.

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These changes and mutations only an effect at point where a new zygote is created.

这些转变只在受精卵产生时才起作用.

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Mutations of Axin have been identified previously in cerebellar medulloblastomas, hepatocellular carcinomas , brest carcinoma and hepatoblastomas.

已经在人髓母细胞瘤 、 肝细胞肝癌 、 肝母细胞瘤及乳腺癌中检测到了Axin基因的突变.

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Chromosome aberrant and some gene mutations play an important role in male infertility.

染色体畸变和基因突变在男性不育中起着重要作用.

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The dominant allele usually controls the normal form of the gene, while mutations are generally RECESSIVE.

显性基因通常控制基因的一般形式, 而突变通常是隐性的.

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Mutations in the presenilin genes are the main cause of familial Alzheimer disease.

早衰蛋白基因的变异是家族性阿尔茨海默病的主要病因.

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Nine mutations including 12 bp duplication , GGCATTGCCCGG encoding Gly-He-Ala-Arg were found in Bos Taurus.

在牛中发现9个突变, 其中包括编码Gly-Ile-Ala-Arg的GGCATTGCCCGG( 12bp)重复单位.

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All variation in Biomorph Land occurred by asexual mutations from a single parent.

那里的一切样态变化都通过遗传来自单个亲本的无性变异来达成.

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Objective : To study the possible relationship between mitochondrial DNA point mutations and hereditary ataxia.

目的: 探索线粒体DNA点突变与遗传性共济失调的关系.

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Objective To find out the relationship between mutations and pathogenesis of Wilson's disease ( WD) by detecting and analyzing the sequence, checking out the mutations of promoter region of WD gene ( ATP7B).

目的检测肝豆状核变性(Wilson disease,WD)ATP7B基因启动子区的DNA序列,分析其结构,发现存在的突变,通过报告基因瞬时表达研究突变对启动子功能的影响。

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This gives us a wonderful opportunity: rather than fixing mitochondrial mutations, we can obviate them.

这给了我们绝好的机会: 我们可以排除它们而无需修复线粒体突变.

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Since Covid-19 was first identified in January 2020, thousands of mutations have been detected.

自从2020年1月首次发现新冠病毒以来,已经检测到数千种变异病毒。

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Mutations in the ABCA 1 gene cause Tangier disease.

ABCA1基因的突变引起Tangier病(TD).

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Objective To study the prevalence of mutations of Wilson disease ( WD ) gene in Chinese.

目的研究我国肝豆状核变性 ( WD ) 基因突变的特征.

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