No pathogenic mutation was detected in the exon and franking regions of MYH9 gene except a synonymous mutation.
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。
We found remarkable differences in protein length, exon structure, and domain count among different phylogenetic lineages.
我们研究发现，不同的世系在蛋白长度、外显子结构和结构域数量上有显著的不同。
The effect of skipping just one exon can be dramatic for an organism.
仅仅略过一段表现子，就可能对生物体造成显著的影响。
The codon 778 of exon 8 in WD gene was one of mutation hotspots in Chinese.
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。
Results: There was no 24-base pair duplication in exon 10 in our cloned gene.
结果：所克隆的壳三糖酶基因在外显子10处没有2 4个碱基的重复序列。
Conclusion JAK2 exon 12 mutations could exist in JAK2V617F-negative PV patients.
结论JAK2V 617 F点突变阴性的PV患者中存在JAK2外显子12突变。
Association studies revealed no association betweenG352A in exon 15 of DAT1 and ADHD.
家系和病例对照研究表明，DAT1第15外显子G352A 基因和ADHD 之间不存在关联。
CONCLUSION: Variation of exon 4 in LEPR gene at site 519 is not a genetic factor of obesity.
结论：瘦素受体基因外显子4中519位点变异不是肥胖症的遗传因素。
Objective: To detect the mutation in exon 15 of cholesteryl ester transfer protein gene and its properties.
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。
Mutations in exon 12 cause cytoplasmic NPM1 localization, and consequently contribute to tumour development.
第12外显子突变导致NPM 1胞浆异位从而发生肿瘤转化。
Results The intergrated target band of ABCB4 gene exon 23 was found in all blood samples from 31 cases with ICP.
结果：31例妊娠期肝内胆汁淤积症患者的血样标本，均扩增出ABCB4基因的外显子23，未发现外显子23的缺失。
One transcript contains exon 3 and 4, the second contains exons 1, 3 and 4 and the third contains all four exons.
其中一个转录物包含第3、4号外显子，第二个包含第1、3、4号外显子，第三个转录物包含有全部4个外显子。
Results A missense mutation of 1346(G>C) in exon 11, which was a homozygotic mutation, was identified in one patient;
结果在1例患者中发现第11外显子的1346 （G>C）的错义突变，为一种纯合突变；
Twenty cases(20/31) were selected randomly for DNA sequencing. No point mutation of ABCB4 gene exon 23 were detected.
随机挑选20例标本测定外显子23的DNA序列，未发现点突变。
Objective To analyze the mutation characterization in exon 8 of ATP7B gene in Chinese Patients with Wilson disease(WD).
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。
Methed Unsymmetrical PCR was used to amplify HLA A gene exon 2,3. The PCR products were used as templates for hybridization.
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。
Based on the three-base periodicity of exon sequence, he developed some Fourier analysis approaches to predict gene regions.
基于外显子序列的三基周期性，他采用傅立叶分析技术提出了几种基因区域和剪切点位置预测方法。
No pathogenic mutation was detected in the exon and franking regions of MYH9 gene except a synonymous mutation(A1143A) in the exon 25.
MYH9基因40个外显子和侧翼区未见致病突变（除25号外显子发生一同义突变，突变类型为A1143A）。
The P53 gene mutation site in osteosarcoma was mostly in GC sequence of exon, especially in exon 7, which was different with other tumors.
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。
ConclusionThe prevalence of the mutation genotype and the mutation allele of PAFAH exon 9 in patients with ACI is significantly increased.
结论ACI患者血浆型PAF - AH基因9号外显子突变基因型及突变等位基因显著增高。
Conclusion There is polymorphism at 20 exon LEPR gene in children with obesity, which may affect the lipid metabolism and the fat distribution.
结论单纯型肥胖儿童瘦素受体基因第20外显子存在基因多态性的变化，且这种变化明显影响肥胖儿童的脂质代谢及体脂分布。
The mutations, including in-frame deletions at exon 19 and substitutions at exon 18 or exon 21, cluster around ATP-binding pocket of TK domain.
这些突变均发生在酪氨酸激酶域的ATP结合域附近，突变为19号外显子上的缺失突变，或18和21号外显子上的替代突变。
Objective To investigate the relationship between the point mutation of ABCB4 gene exon 23 and the intrahepatic cholestasis of pregnancy (ICP).
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 screen the point mutation at the codon 54(GGC54GAC) in the first exon of the mannan binding lectin (MBL) gene in Hans from Guangdong.
目的对广东地区汉族人群的甘露聚糖结合凝集素结构基因第一外显子第54位密码点突变（GGC54GAC）进行初步筛查。
AIM: to observe the correlation of the 17 exon gene polymorphism of insulin receptor gene and the Chinese cerebral infarction and primary hypertension.
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 association of insulin receptor gene exon 17 polymorphism with the transient ischemia attack and essential hypertension in Chinese.
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。
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).
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 investigate the relationship between the polymorphic CAG short-tandem repeat(STR) at the androgen receptor(AR) gene exon 1 and lung cancer.
目的：探讨人雄激素受体（AR）基因第一外显子CAG串联短重复序列（STR）多态性与肺癌发生之间的关系。
Paraoxonase 2 (PON2) gene polymorphism (C311S at exon 9) was determined by PCR-RFLP in 327 type 2 diabetic patients with various degrees of albuminuria.
采用PCRRFLP法检测了327例不同程度白蛋白尿的2型糖尿病患者对氧磷酶2（PON2）基因第9 外显子的C311S多态性。
Paraoxonase 2 (PON2) gene polymorphism (C311S at exon 9) was determined by PCR-RFLP in 327 type 2 diabetic patients with various degrees of albuminuria.
采用PCRRFLP法检测了327例不同程度白蛋白尿的2型糖尿病患者对氧磷酶2（PON2）基因第9 外显子的C311S多态性。
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