Article
Exome sequencing identified FGF12 as a novel candidate gene for Kashin-Beck disease.
Functional & integrative genomics - 1 Jan 2016
Zhang Feng, Dai Lanlan, Lin Weimin, Wang Wenyu, Liu Xuanzhu, Zhang Jianguo, Yang Tielin, Liu Xiaogang, Shen Hui, Chen Xiangding, Tan Lijun, Tian Qing, Deng Hong-Wen, Xu Xun, Guo Xiong
Abstract excerpt
The objective of this study was to identify novel causal genes involved in the pathogenesis of Kashin-Beck disease (KBD). A representative grade III KBD sib pair with serious skeletal growth and development failure was subjected to exome sequencing using the Illumina Hiseq2000 platform. The detected gene mutations were then filtered against the data of 1000 Genome Project, dbSNP database, and BGI inhouse...
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