除同义突变外，在MYH9基因的外显子和弗兰克区域未检测到致病突变。
No pathogenic mutation was detected in the exon and franking regions of MYH9 gene except a synonymous mutation.
SR蛋白和hnRNPs 在外显子中竞争与ESEs 和ESSs 序列的结合。
SR proteins and hnRNPs compete for binding to ESEs and ESSs sequences in exons.
相反，外显子的移除却不会干扰其他基因。
Exons, by contrast, can be moved around without disrupting the rest of the gene.
在剪接过程中有些外显子保留下来有些外显子则不会。
In the process, some of the exons are retained while others are excluded.
这让不断增加的外显子组测序所鉴定的疾病列表又增加了一项。
This adds to the now growing list of disease disorders that have been identified by exome sequencing.
目的：检测胆固醇酯转移蛋白第15外显子基因突变及其性质。
Objective: To detect the mutation in exon 15 of cholesteryl ester transfer protein gene and its properties.
核内的加工酶切下内含子，同时外显子(编码序列)连接在一起。
The introns are cut out by processing enzymes in the nucleus and the exons (coding sequences) ligated together.
“外显子组测序在稀有突变的发现上有很多优势，”Wang表示。
"Exome sequencing has a lot of advantages for the discovery of rare mutations," said Wang.
一些人认为，全基因组测序费用的下降将让外显子组测序很快过时。
Some have argued that the falling price of whole-genome sequencing will soon render exome sequencing obsolete (IS 4/16/2010).
结论WD基因第8外显子778位密码子系中国人的突变热点之一。
The codon 778 of exon 8 in WD gene was one of mutation hotspots in Chinese.
在所分析的8例骨巨细胞瘤中，PCR均检测到PTEN基因的外显子。
Extrons of PTEN gene were detected by PCR in all of 8 cases.
目的研究P53基因第5～6外显子点突变与儿童白血病发生之间的关系。
Objective To discuss the relation between exon5-6point mutations of P53gene and occurrence of leukemia in children.
目的检测中国人神经纤维瘤病1型(nf1)基因32、33外显子突变。
Objective to detect the mutation on exons 32, 33 of Chinese the neurofibromatosis type 1 (NF1) gene.
目的分析肝豆状核变性（WD）ATP7B基因8号外显子在中国人中的突变特点。
Objective To analyze the mutation characterization in exon 8 of ATP7B gene in Chinese Patients with Wilson disease(WD).
结论：雄性激素受体基因外显子a即基因转录激活区的突变是造成少精不育的重要原因。
Conclusion: Mutation of Exon a in ar gene plays a very important part in development of infertile men with oligospermia.
乳腺癌和良性病变中很多外显子被差异性表达，以及促成乳腺癌分子特征的选择性转录子。
Many exons are differently expressed by breast cancer and benign lesions, and alternative transcripts contribute to the molecular characteristics of breast malignancy.
骨肉瘤p 53基因多位于外显子GC序列，尤其是外显子7，有别于其他肿瘤好发位点。
The P53 gene mutation site in osteosarcoma was mostly in GC sequence of exon, especially in exon 7, which was different with other tumors.
我们使用一个已知导致剪切缺陷的83个内含子和35个外显子的突变来评估hsf的效率。
We evaluated HSF efficiency using a set of 83 intronic and 35 exonic mutations known to result in splicing defects.
目的：观察胰岛素受体基因第17外显子基因多态性与中国人脑梗死和原发性高血压的相关性。
AIM: to observe the correlation of the 17 exon gene polymorphism of insulin receptor gene and the Chinese cerebral infarction and primary hypertension.
结果平行tgge发现，两患儿第13外显子存在一纯合突变，其父母此外显子存在杂合突变。
Results a homozygous mutation at exon 13 of the proband was found by parallel TGGE. Homozygous and heterozygous mutations were also found in the family by parallel TGGE.
目的调查广东地区汉族人群MICA基因第5外显子和MICB基因第1内含子微卫星多态性分布。
Objective To investigate the genetic polymorphism of microsatellite in the exon 5 of MICA gene and the intron 1 of MICB gene in Guangdong Han population.
目的：利用聚合酶链反应定点突变技术构建人血小板反应素1基因第13外显子编码钙结合域突变体。
AIM: To establish the mutant of coding calcium binding fragment of the 13th exon of human thrombospondin-1 (TSP-1) gene with polymerase chain reaction (PCR) site directed mutagenesis technology.
目的：探讨ABCB4基因外显子23点突变与妊娠期肝内胆汁淤积症（ICP）发病的关系。
Objective To investigate the relationship between the point mutation of ABCB4 gene exon 23 and the intrahepatic cholestasis of pregnancy (ICP).
这些突变分布于atm基因整个编码区，每个外显子都存在基因变异位点，没有发现明显的突变热点。
These gene mutation distributing in all over the whole coding section of ATM gene. Every Exon exist the gene mutated site and no obvious hot mutated site be discovered.
目的：观察胰岛素受体基因第17外显子基因多态性与中国人短暂性脑缺血发作和原发性高血压的关联。
AIM: to observe the association of insulin receptor gene exon 17 polymorphism with the transient ischemia attack and essential hypertension in Chinese.
目的探讨中国人非小细胞肺癌表皮生长因子受体(EGFR)第18、19、21外显子基因突变状态。
Objective to study the mutation patterns of epithelial growth factor receptor (EGFR) exon 18, 19 and 21 in Chinese non-small-cell lung cancers (NSCLC).
方法采用不对称PCR方法，扩增HLA A基因的第2 ，3外显子，荧光标记扩增产物，作为杂交模板。
Methed Unsymmetrical PCR was used to amplify HLA A gene exon 2,3. The PCR products were used as templates for hybridization.
外显子组测序技术也比全基因组测序走得更远，Wang补充道，不仅仅是测序，还包括捕获技术和数据分析。
The technology for exome sequencing is also further along than for whole-genome sequencing, Wang added, including not only the sequencing, but the capture technologies and the data analysis.
外显子组测序技术也比全基因组测序走得更远，Wang补充道，不仅仅是测序，还包括捕获技术和数据分析。
The technology for exome sequencing is also further along than for whole-genome sequencing, Wang added, including not only the sequencing, but the capture technologies and the data analysis.
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