[Analysis of risk factors for early death in NPM1-mutated acute myeloid leukemia patients]. [PDF]
Zhonghua Xue Ye Xue Za ZhiWang LL +7 more
europepmc +1 more source
HBV-DNA高水平孕妇的HBV 前S和S区基因突变及基因分型
Zhongshan Daxue xuebao. Yixue kexue ban, 2012 【目的】 研究HBV-DNA高水平孕妇的HBV前S(前S1和前S2)及S区的基因突变模式和基因分型,为从病毒因素探讨HBV母婴传播免疫阻断失败提供实验基础【方法】 选取血清HBsAg阳性且HBV-DNA≥105 IU/ mL的孕妇41 例,提取血清HBV-DNA,靶向设计HBV各基因型的前S及S区通用引物, 经PCR 扩增测序进行序列分析, 检测和分析前S及S区基因的突变情况,并进行基因分型【结果】 ①在 41 例样本中, 共有29例( 70.73%)样本存在前S1前S2及S区基因突变 ...
doaj
[Value of gene mutation in the prognosis and treatment of multiple myeloma]. [PDF]
Zhonghua Xue Ye Xue Za ZhiCheng LL, Zhuang JL.
europepmc +1 more source
[The cochlear extracellular matrix gene mutations and hearing loss]. [PDF]
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za ZhiWang Q, Yuan Y, Han W.
europepmc +1 more source
Zhongshan Daxue xuebao. Yixue kexue ban, 2011 【目的】 探讨膜反向斑点杂交法在广东人G6PD基因6种常见突变同步检测中的应用【方法】 用高铁血红蛋白还原试验和G6PD/6-PGD酶活性比值法进行G6PD缺乏症筛查应用多重PCR方法扩增G6PD基因目的片段用Premier Primer6.0软件设计和优化针对广东人常见6种G6PD基因突变型的特异性寡核甘酸探针,用乙基-3-二甲氨基丙碳二亚胺(EDC)法处理尼龙膜并固定探针,制成G6PD基因突变检测用膜条多重PCR扩增产物与固定在膜条上寡核苷酸探针进行杂交 ...
doaj
[A Case of Refractory Pulmonary Enteric Adenocarcinoma with EGFR Sensitive Mutation]. [PDF]
Zhongguo Fei Ai Za ZhiWang X +7 more
europepmc +1 more source
Integrative analytical and statistical framework for optimization of multiplex qPCR detection of <i>TGFBI</i> mutations in refractive surgery candidates. [PDF]
J Zhejiang Univ Sci BGu Y +9 more
europepmc +1 more source
[Niemann-Pick disease with two missense mutations in SMPD1 gene: a case report and literature review]. [PDF]
Zhonghua Xue Ye Xue Za ZhiWei Y, Guo H, Xu JN, Chen YY, Shi HX.
europepmc +1 more source
[Efficacy and safety analysis of avapritinib in children with RUNX1::RUNX1T1 positive-acute myeloid leukemia with KIT mutations]. [PDF]
Zhonghua Xue Ye Xue Za ZhiZheng FY +5 more
europepmc +1 more source
中国南方汉族群体27个Y-STR基因座的遗传多态性及 突变研究
Zhongshan Daxue xuebao. Yixue kexue ban, 2015 摘 要: 【目的】 调查27个Y-STR基因座在中国南方汉族群体的遗传多态性及突变情况?【方法】 采集885名中国南方汉族无关男性个体血样和911对父子血样,采用Yfiler?誖Plus扩增体系对样本进行扩增,并进行毛细管电泳检测与分型,统计相关遗传多态性参数,观察Y-STR基因座突变情况? 【结果】 885名无关男性个体中共观察到880种单倍型,其中875种单倍型为唯一单倍型,5种单倍型分别出现两次?单倍型多样性(HD)为0.999 987 2,系统识别能力(DC)为0.994 350 3?27个Y ...
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