查询词典 mutations

Finally, all mutations of FV gene in probands and their family numbers were confirmed by .restriction enzyme analysis. Their occurence were investigated in the control group.

用限制性内切酶证实变的FV基因在患者家系成员中的分布情况，并在正常对照人群中进行了多态性分析。

The aim of our study was to seek the mutations in MODY1~5 genes in Chinese population by direct sequencing in probands from families with early-onset type 2 diabetes.

通过对早发2型糖尿病家系先证者进行直接测序，寻找中国人群中可能存在的青少年的成人发病型糖尿病1-5基因突变。

Results Six probands (8%) had heterozygous mutations in hTERT or hTR; mutant telomerase resulted in short telomeres.

结果：6 位先证者(8%)的hTERT或hTR存在杂合突变；端粒酶突变后以短端粒的形式存在。

Carrier testing for at-risk family members may be available once the CBS mutations have been identified in the proband.

如果先证者的CBS突变被鉴定，也可能提供有风险的家族成员进行携带者检测。

Results Both the proband 1 and proband 2 wen identified to be hemizygotes of novel GLA missense mutations.

同一基因的不同位点的突变导致的临床表现存在很大的差异。

Results 214 cases of hypercholesterolemia was screened for a entity of these mutations in FDB, but not a single proband was found.

结果 对214例原发性高胆固醇血症患者进行探查，未发现一例FDB先证者。

Members individual from family 1 and 2 were found to carry the same pathological mutations as in their proband but without clinical symptoms. They were identified as preclinical patients.

其中家系1和家系2中分别发现1名成员与先证者存在相同位点的NOTCH3基因致病性突变，尚未出现与先证者相应的临床表现，被确定为临床前期患者。

A new probe based primers specific quantitative PCR method was used for accurate detection of mutations.

采用一种新的基于引物探针特异性的定量PCR方法进行准确的突变检测。

Mutations in the cap gene prevent activation of the operons that normally are expressed in the absence of glucose.

在没有葡萄糖的情况下CAP基因的突变使一般被表达的操纵子失活。

Thus, we hypothesized that the alteration of their negative regulators, such as c-Cbl mutations, may contribute to the oncogenic potential of c-Met and EGFR.

因此，本研究推测c-Cbl的突变或许是造成c-Met和EGFR过表现的原因之一。

But we don't care about Battlegrounds.

但我们并不在乎沙场中的显露。

Ah! don't mention it, the butcher's shop is a horror.

啊！不用提了。提到肉，真是糟透了。