Targeted Sequencing of 179 Genes Associated with Hereditary Retinal Dystrophies and 10 Candidate Genes Identifies Novel and Known Mutations in Patients with Various Retinal Diseases
Investigative Ophthalmology & Visual Science2013Vol. 54(3), pp. 2186–2186
Citations Over TimeTop 10% of 2013 papers
Xuejuan Chen, Kanxing Zhao, Xunlun Sheng, Yang Li, Xiang Gao, Xiumei Zhang, Xiaoli Kang, Xinyuan Pan, Yuan Liu, Chao Jiang, Houxia Shi, Xue Chen, Weining Rong, Li Jia Chen, Timothy Y. Y. Lai, Yani Liu, Xiuying Wang, Songtao Yuan, Qinghuai Liu, Douglas Vollrath, Chi Pui Pang, Chen Zhao
Abstract
A substantial number of potential new genes and new mutations associated with HRDs remain to be discovered. Identification of the novel HRDs-causing mutations in our study not only provides a better understanding of genotype-phenotype relationships in these diseases, but also demonstrates that the approach described herein is an effective method for large scale mutation detection among diverse and complicated HRDs cases.
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