Results 111 to 120 of about 24,268 (167)

[A Case of Refractory Pulmonary Enteric Adenocarcinoma with EGFR Sensitive Mutation]. [PDF]

open access: yesZhongguo Fei Ai Za Zhi
Wang X   +7 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

open access: yesZhongshan 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 ...
doaj  

膜反向斑点杂交法检测广东人G6PD基因6种常见突变

open access: yesZhongshan 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  

[Pathogenic mechanisms of Leber hereditary optic neuropathy caused by m.3472T>C mutation]. [PDF]

open access: yesZhejiang Da Xue Xue Bao Yi Xue Ban
Zhang H, Shan W, Yasheng M, Guan M.
europepmc   +1 more source

[Clinical and molecular characteristics of myeloproliferative neoplasms patients with NFE2 gene mutations]. [PDF]

open access: yesZhonghua Xue Ye Xue Za Zhi
Zhao SY   +15 more
europepmc   +1 more source

[<i>PIK3CA</i> Somatic Mutations Are Associated With Lymph Node Metastasis in Endometrial Cancer]. [PDF]

open access: yesSichuan Da Xue Xue Bao Yi Xue Ban
Shen Q   +5 more
europepmc   +1 more source

[The clinical study of azacitidine and lenalidomide combination in myelodysplastic neoplasm patients with TP53 mutations]. [PDF]

open access: yesZhonghua Xue Ye Xue Za Zhi
Yan X   +8 more
europepmc   +1 more source

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