突变的

Results In the 10 members, T→C nucleotide change at the 223 base of exon 3 was detected in 9, including 6 with Best disease who was confirmed by ophthalmoscopy and electrophysiological examination in whom 2 were affirmed as having homozygote of this mutation. Other 3 young family members with VMD2 gene mutation only had abnormal electro-oculogram manifestations.

结果Best病家系10个成员中，9人VMD2基因外显子2第223位碱基C-T颠换，其中6人通过眼底和眼电生理检查证实为Best病患者，2人为该突变的纯合子；另外有3个年轻成员虽然携带VMD2基因突变，临床上仅表现为眼电图的异常。

Then an effective method is proposed to detect the phasor during the step changes.

论文还介绍了一种识别相位突变的有效方法，并给出了一种相位突变时的相量测量方法。

Paper 1:Functional Analysis of the HOXD13 Mutants Associated with Syndactyly TypeⅤand SynpolydactylyIncidence of congenital limb malformation among the newborn population is 1‰-2‰.

论文一HOXD13基因p.Q317R突变和多聚丙氨酸延展突变的功能研究肢体畸形在新生儿中发生率为1‰-2‰，可单独出现也可作为综合征的一种表型。

T he mutant lines were systematically investigated about their -developmental per iods,agronomical performances,gliadin contents and micros...

结合实验结果和其他相关报道，讨论了实验所获得突变体的应用及离子束注入引发突变的机理。

A sudden or marked change.突变 Of or regulated by one gene or one of a pair of allelic genes.

一个基因分子内部进行带基本性质的重新组合所形成的突变。

Although Fan et al. observed that the milder COI mutation was retained through successive generations, it was always homoplasmic, so the ability to filter it out was never put to the test.

尽管Fan等人认为COI温和突变仍然在后代中保留下来，，由于它总是同质的，所以从不去筛选它们突变的能力。

Objective To analyze the role of p16 gene mutation in acute lymphoblastic leukemia genesis and mechanism of p16 gene mutation.

目的 探讨p16基因突变在白血病发生中的作用及基因突变的机制。

Male sibs who inherit the mutation will be affected ; female sibs who inherit the mutation will be carriers and will usually not be affected .

继承突变的同胞兄弟将成为患者；继承突变的同胞姐妹将成为携带者，通常不会发病。

To facilitate the analysis of the different mutations, we designed Human Splicing Finder, a tool to predict the effects of mutations on splicing signals or to identify splicing motifs in any human sequence.

为了便利这些不同突变的分析，我们设计了Human Splicing Finder，一个用来预测突变对剪切信号影响或确定任何人类序列中剪切motifs的工具。

The research, which is in the July 19 issue of the New England Journal of Medicine, found a gene variant that increases the odds of having RLS with periodic limb movements during sleep by 50 percent.

该研究发现，一个基因突变使在睡觉时患RLS的几率增加50%，研究人员还发现，那些有该基因突变的人群铁离子含量普遍偏低。

The split between the two groups can hardly be papered over.

这两个团体间的分歧难以掩饰。

This approach not only encourages a greater number of responses, but minimizes the likelihood of stale groupthink.

这种做法不仅鼓励了更多的反应，而且减少跟风的可能性。