mutations相关论文
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55. Mutagenic Analysis on the Polyhedrin gene (polh) of Bombyx mori Nuclear Polyhedrosis virus (BmNP
In our early studies, the abnormal shape of the polyhedra of Bombyx mori nuclear polyhedrosis virus (BmNPV) induced by c......
Evaluation of genes encoding the enzymes of the kennedy pathway in soybeans (Glycine max (L.) Merr.)
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Molecular Diagnosis of Retinitis Pigmentosa by Whole Exome Sequencing in a Chinese Cohort of 98 Smal
Purpose Retinitis pigmentosa(RP)is probably the most common inherited retinal disease.Because RP is highly heterogeneous......
Introduction: β-Thalassemia is a common genetic disorder in Southern of China.The aim of this retrospective study is to......
Cancer is a complex disease involved with genomic,epigenomic,and gene expression aberrations.Integrating analysis of can......
Integrating genomic data and protein interaction networks to prioritize cancer-specific driver genes
Identification of driver genes remains a critical challenge in the cancer genomics field.One reason may lie in that func......
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MOLECULAR EPIDEMIOLOGY INVESTIGATION OF β-THALASSEMIA IN ZHONGSHAN CITY, GUANGDONG PROVINCE, PEOPLE&
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Moxifloxacin-induced multiple organ dysfunction possibly related to mutations in several genes invol
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With advances in targeted and personalized treatment for lung cancer, molecular analysis of tumors is routinely performe......
Mechanisms of acquired resistance of BRCA1/2-driven tumors to platinum compounds and PARP inhibitors
Molecular pathogenesis of tumors arising in BRCA1/2 germ-line mutation carriers usually includes somatic inactivation of......
BACKGROUND Alström syndrome(AS,OMIM ID 203800)is a rare disease involving multiple organs in children and is mostly rep......
BACKGROUND CYP21A2 gene mutations may all cause reduction or loss of 21-hydroxylase activity,leading to development of c......
目的 探讨载脂蛋白B(ApoB)基因突变对阿托伐他汀调脂作用的影响.方法 选取152例高脂血症患者为研究对象,采用聚合酶链反应-限制性......
Molecular analysis of hepatitis B virus isolates in Mexico: Predominant circulation of hepatitis B v
AIM:To determine the genotypes in Mexican hepatitis B virus (HBV) isolates and characterize their precore and core promo......
Wilson disease: Identification of two novel mutations and clinical correlation in Eastern Chinese pa
AIM: To study mutations in the P-type ATPase (ATP7B)gene responsible for Wilson disease (WD) in the East Chinese populat......
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is associated with asymptomatic malaria in a rur
Objective: To investigate 4 combinations of mutations responsible for glucose-6-phosphate dehydrogenase (G6PD) deficienc......
A total of 100 HIN1 flu real-time-PCR positive throat swabs collected from fever patients in Zhejiang,Hubei and Guangdon......
Specific VpU Codon Changes were Significantly associated with gp120 V3 Tropic Signatures in HIV-1 B-
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变态（Ｍｕｔａｔｉｏｎｓ）薄贵培，坦怀编译［编者按］巴塞罗纳国际建协第１９届大会围绕“现在与未来──城市中的建筑学”主题分５个主题，这部分是第１个分主题的内容......
Untangling a complex web:Computational analyses of tumor molecular profiles to decode driver mechani
Genome-scale studies focusing on molecular profiling of cancers across tissue types have revealed a plethora of aberrati......
Prevalence of gene mutations in a Chinese 46,XY disorders of sex development cohort detected by targ
46,XY disorders of sex development(DSD)is characterized by incomplete masculinization genitalia,with gonadal dysplasia a......
目的 分析温州地区120例耳聋患者的致聋原因,并探讨线粒体DNA (mitochondrial DNA,mtDNA) 12S rRNA基因A1555G和C1494T突变与耳聋......
目的 研究家族性渗出性玻璃体视网膜病变(familial exudative vitreoretinopathy,FEVR)患者卷曲蛋白4基因(Frizzled 4,FZD4)突变类......
Acute myeloid leukemia (AML) is a very heterogeneous neoplasm of the hematopoietic stem cell.Despite important achieveme......
Since the first case of novel H7N9 infection was reported,China has experienced five epidemics of H7N9.During the fifth ......
Most conventional and mode crop-improvement methods exploit natural or artificially induced genetic variations and requi......
Copper-chelating therapeutic effect in Wilson disease with different clinical phenotypes and polymor
该文从挂篮荷载计算、施工流程、支座及临时固结施工、挂篮安装及试验、合拢段施工、模板制作安装、钢筋安装、混凝土的浇筑及养生......
目的系统性鉴定MTB利福平耐药菌株rpoA、rpoB及rpoC基因补偿性突变的类型，评估不同rpoB基因耐药突变类型及MTB遗传背景对补偿性突变......
目的 研究HBV逆转录酶区(reverse transcriptase,RT)自然变异情况,分析与不同阶段慢性肝病的关系.方法 收集年龄和性别比例相匹配......
全球肝细胞癌(HCC)案例中大约53％与HBV感染有关,而HBV基因变异与HCC的发生和发展有着重要的关系.由于HBV基因组复制时必须经过RNA中......
目的探讨肺表面活性物质蛋白C基因（SFTPC）218位点变异相关性婴幼儿肺间质疾病患儿的临床特点、转归及影响因素。方法回顾性分析广西......
Moxifloxacin-induced multiple organ dysfunction possibly related to mutations in several genes invol
Quinolones have been used to treat various infectious diseases.The addition of fluorine atoms has allowed for extensive ......
Genetic Analysis of 17 Children with Hunter Syndrome: Identification and Functional Characterization
为探究吕家坨井田地质构造格局,根据钻孔勘探资料,采用分形理论和趋势面分析方法,研究了井田7......
近年来，多原发肺癌（ MPLC）的发病率逐渐上升，但目前尚无诊断MPLC的金标准，尤其当多发病灶病理类型相同时，与肺内转移癌的鉴别仍较困难。......
为探究吕家坨井田地质构造格局,根据钻孔勘探资料,采用分形理论和趋势面分析方法,研究了井田7......
Genetic alteration andmutation proifling ofcirculating cell-free tumor DNA (cfDNA) fordiagnosis andt
为探究吕家坨井田地质构造格局,根据钻孔勘探资料,采用分形理论和趋势面分析方法,研究了井田7......
目的 通过比较ARMS实时荧光定量PCR法和DNA直接测序法,分析K-ras基因突变检测结果的一致性,确立临床K-ras基因突变检测的最适方法.......
Cytokinin plays a critical role in plant growth and development by regulating cell divisions and cell differentiation. R......
Wilson disease: Identification of two novel mutations and clinical correlation in Eastern Chinese pa
AIM: To study mutations in the P-type ATPase (ATP7B)gene responsible for Wilson disease (WD) in the Eastern Chinese popu......
Rapid re-emergence of YMDD mutation of hepatitis B virus with hepatic decompensation after lamivudin
Lamivudine has a high rate of antiviral resistance. Sequential treatment of anti-hepatitis B virus (HBV) is commonly use......
Major advances have been made over the last decade in our understanding of the molecular basis ofseveral cardiac conditi......
Lung cancer,of which non-small lung cancer is the most common subtype,represents the leading cause of cancer related-dea......
目的:筛查中国原发性开角型青光眼(primary open-angle glaucoma,POAG)家系可能致病基因404个。方法:收集合肥名人眼科医院1个POAG......
目的对一个单纯型甲基丙二酸血症(MMA)家系进行基因突变的检测和分析,探讨其发病的分子遗传学病因。方法分别用串联质谱技术、气象......
