Exome Sequencing Identifies Compound Heterozygous Mutations in CYP4V2 in a Pedigree with Retinitis Pigmentosa

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

Identification of CHIP as a Novel Causative Gene for Autosomal Recessive Cerebellar Ataxia

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