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Rapid and direct quantitative assay to determine gene copy number using multiplex nested real-time q
[会议论文] 作者：Wan-Jun Zhou,Wei-Yu Liu,Dun Liu,Ze-Yan Zhong,Xiang-Min Xu,
来源：中华医学会2012年医学遗传学年会暨全国第十一次医学遗传学学术会议 年份：2012
More and more evidence reveals copy number variants(CNVs)have great relevance to common human diseases.For α-thalassemia,there exists a typical relationship between clinical phenotypes and genotypes i...
Rapid simultaneous genotyping of polymorphisms in ADH1B and ALDH2 using high resolution melting assa
[会议论文] 作者：Xiao-Wen Yuan,Wan-Jun Zhou,Xuan Shang,Liang Li,Yan-Hui Liu,Xiang-Min Xu,
来源：第十二次全国医学遗传学学术会议 年份：2013
Background: Alcohol dehydrogenase-1B (ADH1B) and aldehyde dehydrogenase-2 (ALDH2) are important enzymes in human alcohol metabolism.The genetic polymorphisms of ADH1B 143G>A (ADH1B*1/ADH1B*2) and ALDH...
A quantitative assay to detect a-thalassemia deletions and triplications using multiplex nested real
[会议论文] 作者：Wan-Jun Zhou,Wei-Yu Liu,Dun Liu,Jian-Hui Jiang,Dian-Min Zhou,Ze-Yan Zhong,Xiang-Min Xu,
来源：第十二次全国医学遗传学学术会议 年份：2013
Increasing evidence indicates that copy number variants (CNVs) have great relevance to common human diseases.In a-thalassemia, clinical phenotypes are related to genotypes, specifically copy number ch...
[期刊论文] 作者：ZHAO Yong,XU Chao,WANG Wan-Jun,ZHOU Qiang,HAO Yin-Lei,YANG Jian-Yi,WANG Ming-Hua,JIANG Xiao-Qing,
来源：中国物理快报（英文版） 年份：2011
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Molecular characterization and copy number of SMN1, SMN2 and NAIP in Chinese patients with spinal mu
[会议论文] 作者：Ping Fang,Liang Li,Wan-Jun Zhou,Ze-Yan Zhong,Li Lin,Xiang-Min Xu,Jian Zeng,Wei-Qing Wu,Jian-Sheng Xie,
来源：2014全球华人遗传学大会暨全国第十三次医学遗传学学术会议 年份：2014
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Molecular characterization and copy number of SMN1, SMN2 and NAIP in Chinese patients with spinal mu
[会议论文] 作者：Ping Fang,Liang Li,Jian Zeng,Wan-Jun Zhou,Wei-Qing Wu,Ze-Yan Zhong,Ti-Zhen Yan,Jian-Sheng Xie,Jing Huang,
来源：2014全球华人遗传学大会暨全国第十三次医学遗传学学术会议 年份：2014
Background: Spinal muscular atrophy (SMA) is caused by SMN1 dysfunction, and the copy number of SMN2 and NAIP can modify the phenotype of SMA.The aim of this study was to analyze the copy numbers and...
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