Exome sequencing identifies compound heterozygous mutations in CYP4V2 in a pedigree with retinitis pigmentosa.

by Yun Wang, Liheng Guo, Su-Ping Cai, Meizhi Dai, Qiaona Yang, Wenhan Yu, Naihong Yan, Xiaomin Zhou, Jin Fu, Xinwu Guo, Pengfei Han, Jun Wang, Xuyang Liu
Published 2012-01-01

Identification of CHIP as a novel causative gene for autosomal recessive cerebellar ataxia.

by Yuting Shi, Junling Wang, Jia-Da Li, Haigang Ren, Wenjuan Guan, Miao He, Weiqian Yan, Ying Zhou, Zhengmao Hu, Jianguo Zhang, Jingjing Xiao, Zheng Su, Meizhi Dai, Jun Wang, Hong Jiang, Jifeng Guo, Yafang Zhou, Fufeng Zhang, Nan Li, Juan Du, Qian Xu, Yacen Hu, Qian Pan, Lu Shen, Guanghui Wang, Kun Xia, Zhuohua Zhang, Beisha Tang
Published 2013-01-01