查询词典 mutations

Objective To identify additional epidermolysis bullosa simplex mutations for studying the correlation between genotype and phenotype of EBS, and to provide basis for genetic counselling, as well as for gene diagnosis and gene therapy..

目的鉴定更多的单纯型大疱性表皮松解症突变以研究EBS基因型和表型关系，为EBS的遗传咨询及基因诊断和基因治疗奠定基础。

This relationship between number of mutations and fitness is known as synergistic epistasis.

这种突变数量与适合度之间的关系被称为增效性上位。

This raises the possibility of HIF2A mutations being associated with other cases of erythrocytosis.

这就产生了对于HIF2A突变与其他红细胞增多症有关的怀疑。

We now report a subsequent analysis of HIF2A in a cohort of 75 erythrocytosis patients and identify 4 additional patients with novel heterozygous Met535Val and Gly537Arg mutations.

我们报道对75例红细胞增多症病人的分析，发现有4人的杂合子Met535Val和Gly537Arg发生突变。

Somatic mutations of JAK2 exon 12 as a molecular basis of erythrocytosis.

这部分患者诊断上常会有困难，因此JAK2 exon12突变的检测对这些患者更加重要。

NEW YORK Feb 01 - Researchers have identified a myeloproliferative syndrome, defined by mutations in the Janus kinase 2 gene, that includes patients with a current diagnosis of polycythemia vera or idiopathic erythrocytosis.

纽约 二月一日－研究者已经确认了一种由Janus激酶2基因变异引起的新型骨髓增生综合症，这一症状现在被诊断为真性红细胞增多症或自发性红细胞红细胞增多

We aimed to ascertain the frequency of GBA mutations in an ethnically diverse group of patients with Parkinson's disease.

我们的目的是确定在一个种族多样的帕金森患者群体的GBA基因突变频率。

Objective To investigate the significance of exon 4-8 of p53 gene mutations in fibroblasts of keloids.

目的：分析瘢痕疙瘩中p53基因第4-8外显子的突变及其意义。

Among them, mutations in exon 7 was highest, while in exon 5 was lowest.

其中以第7号外显子出现的频率最高，第6、8外显子次之，第5外显子最低。

Objective To investigate the relation between p53 (exon 7) mutations and p53 overexpression in human cervical cancer.

目的 探讨宫颈癌 p5 3外显子 7突变与 p5 3蛋白高表达的关系。

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。