Article
Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes.
PloS one - 1 Jan 2013
Huang Li, Zhang Qingyan, Li Shiqiang, Guan Liping, Xiao Xueshan, Zhang Jianguo, Jia Xiaoyun, Sun Wenmin, Zhu Zhihong, Gao Yang, Yin Ye, Wang Panfeng, Guo Xiangming, Wang Jun, Zhang Qingjiong
Abstract excerpt
OBJECTIVE: The goal of this study was to identify mutations in 25 known causative genes in 47 unrelated Chinese families with cone-rod dystrophy (CORD). METHODS: Forty-seven probands from unrelated families with CORD were recruited. Genomic DNA prepared from leukocytes was analyzed by whole exome sequencing. Variants in the 25 genes were selected and then validated by Sanger sequencing. RESULTS: Fourteen...
Topics
- ATP-Binding Cassette Transporters
- Calcium Channels, L-Type
- China
- Cyclic Nucleotide Phosphodiesterases, Type 6
- Cyclic Nucleotide-Gated Cation Channels
- Cytoskeletal Proteins
- Exome
- Eye Proteins
- Humans
- Mutation
- Pedigree
- Proteins