missense mutation
英
美
错义突变
双语例句
- A missense mutation ( 2879 A → G) in ADAR gene is detected in the DSH family, which is probably one of the molecular bases of the pathogenesis of the disease.
DSH家系中患者ADAR基因存在错义突变（2879A→G），这可能是导致DSH发病的分子机制之一。 - Study on the Relationship between Progesterone Receptor Gene Polymorphism 、 MDR3 ( Multidrug Resistance 3) Missense Mutation and Intrahepatic Cholestasis of Pregnancy
孕激素受体基因多态性、MDR3基因错义突变与妊娠期肝内胆汁淤积症的相关性研究 - The missense mutation between ADR nc-1and ADW or ayw is higher than between the different strains of adr.
不同亚型间的错义突变比同一亚型不同毒株间的错义突变多。 - Missense mutation in the β B1-crystallin gene caused autosomal dominant congenital cataract in China
晶状体蛋白βB1基因错义突变引起常染色体显性遗传性白内障 - Missense mutation and frame shift mutation accounted for 73 percent of all.
错义突变和移码突变占全部突变的73%。 - The new missense mutation results in a change in the primary and tertiary structure of the IDS protein. It is possible that this mutation severely impairs the enzymatic activity and is the underlying basis for the pathology seen in this patient with Hunter syndrome.
该错义突变改变了IDS酶的一级结构和三级空间结构，从而可能引起IDS酶活性大大降低，这可能是该Hunter综合征患者的真正致病原因。 - Yen et al. found a missense mutation ( Pro → Ala) at codon 12 of PPAR γ 2 exon B by screening for mutations in the entire coding region of PPAR γ gene. This variant lowers transcription capacity.
Yen等通过对PPARγ基因整个编码区的基因变异进行筛选发现，位于PPARγ2外显子B第12密码子的脯氨酸（Pro）突变为丙氨酸（Ala），这种突变引起PPARγ转录活性降低。 - A nonsense mutation of 610 ( GT) in exon 6 combined with a missense mutation of 6679 ( CT) in exon 47, which was a compound heterozygotic mutation, were identified in the other patient.
在另1例患者中发现第6外显子的610（GT）的无义突变和第47外显子的6679（CT）的错义突变，为一种复合性杂合突变。 - It is a missense mutation in exon III.
它是位于外显子III的错义突变。 - While in family III, a missense mutation was caused by substitution of an adenosine with a thymidine in CDS 2822. We successfully identified the disease gene for multiple familial trichoepithelioma through mutation analysis.
家系III中的病人在基因CYLD的CDS区域的的2822位由腺嘌呤突变为胸腺嘧啶，发生了错义突变。通过突变检测，我们成功地克隆了多发性毛发上皮瘤的致病基因。 - Association Study between Missense Mutation in Renin Gene and Essential Hypertension
肾素基因错义突变与原发性高血压的相关性研究 - A homozygous missense mutation in PEPD encoding peptidase D causes prolidase deficiency associated with hyper-IgE syndrome
编码肽酶D的PEPD基因发生纯合错义突变引发氨酰基脯氨酸酶缺乏症伴高IgE综合征 - Missense mutation or point mutation;
无义突变或点突变； - β_3-adrenergic receptor gene missense mutation is not related with simple obesity
β3肾上素能受体基因错义突变与单纯性肥胖症无关 - Missense mutation and frame shift mutation were possibly the main reason of its mactivation;
错义和移码突变可能是其失活的主要原因。 - We show that sodium channels with the missense mutation recover from inactivation more rapidly than normal and that the frameshift mutation causes the sodium channel to be non-functional.
电生理研究显示含有错义突变的钠离子通道比正常通道从静止中恢复的更快，而读码突变使钠离子通道失去功能。 - 13 sites of synonymous mutation and 23 sites of missense mutation.
同义突变13个，错义突变23个。 - A new missense mutation in caveolin-3 gene causes rippling muscle disease
凹陷蛋白-3基因的1种新错义突变导致波纹肌肉病 - A missense mutation outside the large pocket of the retinoblastoma protein
发生在成视网膜细胞瘤蛋白大袋立体结构外的错义突变 - Results A missense mutation of TGC ( Cys) to TAC ( Tyr) at codon 634 in exon 11 of the RET proto-oncogene was detected in a patient with pheochromocytoma diagnosed by pathology.
结果家系中1例病理确诊嗜铬细胞瘤的患者存在RET原癌基因第11外显子634密码子错义突变； - Point mutation ( missense mutation/ nonsense mutation) in the coding sequence of gene is the most common type of mutation causing inherited human diseases.
位于基因编码区的点突变（错义突变/无义突变）是导致人类遗传疾病突变中最常见的类型。 - Restriction enzyme analysis confirmed: the proband is the missense mutation carrier, MH susceptible person.
限制酶分析确认：临床确诊者及其母亲为该错义突变携带者，为MH易感者。 - Despite very significant recent progress in genomic and statistical tools, the genetic dissection of human essential hypertension still provides a major challenge. We performed association study between missense mutation of some causal genes related with lifestyle and EH and MI in Japanese population.
尽管最近在遗传技术和统计工具方面有显著的进步，人类原发性高血压和冠心病的遗传学分析仍然是一个巨大的挑战。