Conclusion: GJB2 gene mutations also exist in Chinese NSHI patients.
结论：中国人NSHI患者也存在GJB2基因的突变。
Methods the gene mutations were diagnosed by the reverse dot blot (RDB).
方法用反向点杂交法(rdb)诊断患儿的基因突变点。
In this study, it appears that ALK gene mutations also trigger the production of neuroblastoma cells.
这项研究显示，ALK基因突变同样引起神经母细胞癌细胞的增殖。
However, so far, geneticists have found only rare gene mutations that contribute to isolated cases of obesity.
但是到现在为止，遗传学者仅发现少量的的基因突变导致肥胖的孤立案例。
In recent years, several gene mutations have been discovered that increase a woman's risk of breast cancer.
近年来，（科学家）发现多个基因突变会增加妇女患上乳腺癌的风险。
Conclusion The gene mutations detected were the parental generation, rather than individual genovariation.
结论所检测基因突变为亲代遗传，而非个体基因变异；
Objective To explore SCN5A gene mutations in Chinese patients with congenital long QT syndrome type 3 (LQT3).
目的研究中国人遗传性长QT综合征3型（LQT3）相关基因SCN5A突变情况。
Objective To study the clinical manifestations and gene mutations of Chinese long QT syndrome (LQTS) patients.
目的研究我国长qt综合征(LQTS)病人的临床特征和基因突变特点。
Objective To investigate the effects of target gene mutations on the quinolones resistance in Escherichia coli.
目的探讨大肠埃希菌靶位基因突变对喹诺酮类药物耐药的影响。
No other sarcomere gene mutations identified in the remaining probands caused apical HCM in other family members.
并没有在其余的患者发现别的肌节蛋白基因突变以造成其他家庭成员的心尖肥厚型心肌病。
Clinical and Biological Features Associated With Epidermal Growth Factor Receptor Gene Mutations in Lung Cancers.
肺癌中表皮生长因子受体基因的临床和生物学特点。
Objective To analyze the types and distribution of glucose-6-phosphate dehydrogenase(G6PD) gene mutations in Yunnan province.
目的分析云南人群中葡萄糖6 磷酸脱氢酶（G6PD）缺乏症患者的基因突变类型及分布特点。
Other studies have found rare gene mutations with dramatic effects on people's ability to digest, absorb, and use vitamin B12.
其它研究已经发现了一些罕见的基因突变，这些突变对病人的消化吸收和利用维生素b12的能力有很大的影响。
The review presents the process and related genes of copper transportation and the congenital diseases result from gene mutations.
现介绍铜转运过程和铜转运相关基因，以及基因突变造成铜代谢异常的先天性疾病。
Objective To explore the disease-associated gene mutations in early onset familial type 2 diabetes containing subjects with MODY2(GCK).
目的早发2型糖尿病家系中可能存在MODY2基因（GCK）的致病突变，了解MODY2基因在早发家族性2型糖尿病发病中作用。
HCM can be caused by mutations in a number of different genes, and different gene mutations may result in more or less severe symptoms.
HCM可能是由一系列不同的基因突变造成的，突变基因的不同可能会导致症状的严重程度不一。
Objective To analyze the ABCD1 gene mutations in 5 cases of X-linked adrenoleukodystrophy (X-ALD) patients and 2 cases of their mothers.
目的对5例x -连锁肾上腺脑白质营养不良(X -ALD)患儿及其中2例的母亲进行ABCD 1基因突变分析。
Ichthyosis syndrome is a series of genodermatoses clinically manifested by ichthyosiform lesions. Most of them are caused by gene mutations.
鱼鳞病综合征是一组皮肤症状表现为鱼鳞病样损害的遗传性疾病，大部分由于基因突变引起。
Recent advances in the identification of human gene mutations have provided new insights in the biology and pathology of skeletal development.
近期在鉴定人类基因突变方面的新进展为我们提供了研究骨骼发育的生物学和病理学机制的新思路。
In this study, the researchers were looking at a population with high rates of disease-causing gene mutations to investigate genetic causes of deafness.
在这份研究中，研究人员研究带有大量致病基因突变的人，来调查失聪的原因。
This review will address the research advancement in genetic studies of breast cancer susceptibility as well as the screening methods for gene mutations.
现就近年来乳腺癌易感基因的遗传学研究及基因变异的筛查技术进展作一综述。
Objective To determine the relationship between MEN1 gene mutations and occurrence of multiple endocrine neoplasia type 1 and their inherited characteristics.
目的探讨多内分泌腺瘤病1型的发病与MEN1基因突变的相互关系及其遗传特征。
Instead, women with such gene mutations were excluded to allow researchers to concentrate on lifestyle factors such as smoking, exercise, nutrition and weight.
相反，排除有相关基因突变的女性，研究者将研究重点放在生活方式上面，如抽烟，运动，营养和体重。
This paper reviews the roles of gene mutations, transforming factors, expression of receptors on cells and growth factors in the etiology of pituitary adenomas.
本文对垂体腺瘤中基因突变、转录因子、细胞表达受体、生长因子的作用及关系作一述评。
For instance, previous genetic studies of hundreds of families with severely low blood pressure enabled his team to identify the gene mutations used in the study.
例如，以前的数百个患有严重低血压的家族基因研究使其小组识别了研究中所用的基因突变。
The apoptosis of spermatogenic cells is influenced by multiple factors, such as neuroendocrine, physical and chemical factors, specific genes, and gene mutations.
生精细胞凋亡受神经内分泌因素、各种理化因素、特异性基因及基因突变等许多因素的影响。
The gene mutations of GP receptors inevitably influence the expression of quantity and quality in platelet surface receptors, and thus affect platelet aggregation.
GP受体的基因突变必然影响血小板表面受体的表达数量与质量，从而影响血小板聚集。
The gene mutations of GP receptors inevitably influence the expression of quantity and quality in platelet surface receptors, and thus affect platelet aggregation.
GP受体的基因突变必然影响血小板表面受体的表达数量与质量，从而影响血小板聚集。
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