Results 141 to 150 of about 16,526 (215)
[Clinical and genetic characteristics of young patients with myeloproliferative neoplasms]. [PDF]
Zhonghua Xue Ye Xue Za Zhi, 2023 Zhang MY +31 more
europepmc +1 more source
T-DNA插入稻瘟病菌Gγ亚基基因启动子的突变体A1-412丧失形成附着胞、穿透和致病能力 [PDF]
, 2006 政逸 王 +3 more
openalex +1 more source
Zhongshan Daxue xuebao. Yixue kexue ban, 2015 【目的】 报告1例远端型遗传性运动神经元病 ( dHMN) 家系,对家系进行分子遗传学研究,探寻致病基因,并探讨全基因组外显子测序在临床诊断和研究中的应用价值?【方法】 对该家系进行临床及电生理检查,在排除与临床诊断相关已知基因的突变后,先对该家系的先证者和另一旁支的患者进行全基因组外显子测序?生物信息学分析,然后对采集到血样的22名家系成员,包括10例患者进行突变筛查及突变与疾病共分离分析?【结果】 全基因组外显子测序?突变筛查及突变与疾病共分离分析结果显示该家系先证者和患者BSCL2 ...
doaj
[Analysis of 59 cases of large vestibular aqueduct syndrome SLC26A4gene mutation frequency and new mutation sites]. [PDF]
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi, 2023 Su D +6 more
europepmc +1 more source
Ulnar-Mammary syndrome with TBX3 gene mutation in a Chinese family: A case report and literature review. [PDF]
Zhong Nan Da Xue Xue Bao Yi Xue Ban, 2022 Peng N, Guo M, Jiang T.
europepmc +1 more source
Zhongshan Daxue xuebao. Yixue kexue ban, 2014 摘 要： 【目的】 鉴定一个婴儿肥厚型心肌病家系ＧＡＡ基因的致病性突变。【方法】 分析一例患病女婴的临床及家系资料；提取先证者及其父母和姐姐的外周血ＤＮＡ，ＰＣＲ扩增ＧＡＡ基因的全部２０个外显子及剪接位点序列，对ＰＣＲ产物进行直接测序。【结果】家系分析表明该病的遗传方式可能为常染色体隐性遗传；心脏彩超提示患儿有肥厚型心肌病；先证者ＧＡＡ基因有两个复合杂合性突变：遗传自母亲的外显子１３的ｃ．１８４３Ｇ＞Ａ（ｐ．Ｇ６１５Ｒ）错义突变和遗传自父亲的外显子１８的ｃ．２６０８Ｃ＞Ｔ（ｐ．Ｒ８７０Ｘ）无义突变 ...
doaj
[SWI/SNF Complex Gene Mutations Promote the Liver Metastasis of Non-small Cell Lung Cancer Cells in NSI Mice]. [PDF]
Zhongguo Fei Ai Za Zhi, 2023 Gao L +16 more
europepmc +1 more source