Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes.

Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes.

The goal of this study was to identify mutations in 25 known causative genes in 47 unrelated Chinese families with cone-rod dystrophy (CORD).Forty-seven probands from unrelated families with CORD were recruited. Genomic DNA prepared from leukocytes was analyzed by whole exome sequencing. Variants in...

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Bibliographic Details
Main Authors: Li Huang, Qingyan Zhang, Shiqiang Li, Liping Guan, Xueshan Xiao, Jianguo Zhang, Xiaoyun Jia, Wenmin Sun, Zhihong Zhu, Yang Gao, Ye Yin, Panfeng Wang, Xiangming Guo, Jun Wang, Qingjiong Zhang
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2013-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3679152?pdf=render

Internet

http://europepmc.org/articles/PMC3679152?pdf=render

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