Results 101 to 110 of about 28,584 (144)

[Clinical phenotypes and genotypes of congenital fibrinogen disorder: an analysis of 16 children]. [PDF]

open access: yesZhongguo Dang Dai Er Ke Za Zhi
Wang M   +7 more
europepmc   +1 more source

[The natural history of the relationship between <i>OTOF</i> mutation-related genotypes and audiological phenotypes]. [PDF]

open access: yesLin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi
Han L   +9 more
europepmc   +1 more source

肾素-血管紧张素系统基因多态性与慢性心力衰竭的关系

open access: yesZhongshan Daxue xuebao. Yixue kexue ban, 2006
[目的]探讨中国南方汉族人群中,血管紧张素转换酶(ACE)及血管紧张素原(AGT)双基因多态性与慢性心力衰竭发病的关系.[方法]用聚合酶链反应及限制性片段长度多态性技术检测111例慢性心力衰竭患者和110例健康者的ACE基因I/D及AGT基因M235T的多态性.[结果]①慢性心力衰竭组DD基因型与D等位基因的频率均高于对照组.DD基因型0.468比0.227,P<0.01;D等位基因0.667比0.436,P<0.01.②AGT基因M235T多态性在慢性心力衰竭组及对照组的分布无统计学差异 ...
doaj  

[Genotype-phenotype relationship and genetics study of 115 cases with Wilson's disease]. [PDF]

open access: yesZhonghua Gan Zang Bing Za Zhi
Xia JK   +5 more
europepmc   +1 more source

A novel PAX9 variant in a Chinese family with non-syndromic oligodontia and genotype-phenotype analysis of PAX9variants. [PDF]

open access: yesHua Xi Kou Qiang Yi Xue Za Zhi
Jin Z   +14 more
europepmc   +1 more source

[Association analysis between genetic nurturing effects of <i>CTNNA</i> gene family and ischemic stroke]. [PDF]

open access: yesBeijing Da Xue Xue Bao Yi Xue Ban
Wu J   +12 more
europepmc   +1 more source

西北地区冠心病患者ApoE基因多态性分布研究以及对他汀类药物使用的指导意义 附视频

open access: yesZhongguo shiyan zhenduanxue
目的 探讨我国西北地区冠心病患者ApoE基因多态性分布情况。方法 选取西安交通大学第一附属医院冠心病治疗患者2 388例,检测ApoE的基因型,统计基因型及等位基因分布特征,并对比国内外其他地区基因型及等位基因分布差异。结果 E3E3、E3E4、E2E3、E2E4、E4E4、E2E2,分别占患者总数的70.31%、15.20%、11.93%、1.30%、0.75%、0.50%。检测出ApoE E2、E3及E4等位基因频率分别为7.12%、83.88%、9.00%。不同性别 ...
doaj   +2 more sources

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