Article
Genome-wide copy number variation study and gene expression analysis identify ABI3BP as a susceptibility gene for Kashin-Beck disease.
Human genetics - 1 Jun 2014
Zhang Feng, Guo Xiong, Zhang Yinping, Wen Yan, Wang Weizhuo, Wang Sen, Yang Tielin, Shen Hui, Chen Xiangding, Tian Qing, Tan Lijun, Deng Hong-Wen
Abstract excerpt
Kashin-Beck disease (KBD) is a chronic osteochondropathy. In this study, we conducted the first genome-wide copy number variation study (GCNVS) of KBD totally involving 2,743 Chinese Han adults. GCNVS was first performed using Affymetrix Human SNP6.0 Arrays. The identified copy number variations (CNVs) were then replicated in an independent Chinese Han sample containing 1,026 subjects. SNP genotyping, CNV...
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