Systematic evaluation of a targeted gene capture sequencing panel for molecular diagnosis of retinitis pigmentosa.

Systematic evaluation of a targeted gene capture sequencing panel for molecular diagnosis of retinitis pigmentosa.

Inherited eye diseases are major causes of vision loss in both children and adults. Inherited eye diseases are characterized by clinical variability and pronounced genetic heterogeneity. Genetic testing may provide an accurate diagnosis for ophthalmic genetic disorders and allow gene therapy for spe...

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Main Authors: Hui Huang, Yanhua Chen, Huishuang Chen, Yuanyuan Ma, Pei-Wen Chiang, Jing Zhong, Xuyang Liu, Asan, Jing Wu, Yan Su, Xin Li, Jianlian Deng, Yingping Huang, Xinxin Zhang, Yang Li, Ning Fan, Ying Wang, Lihui Tang, Jinting Shen, Meiyan Chen, Xiuqing Zhang, Deng Te, Santasree Banerjee, Hui Liu, Ming Qi, Xin Yi
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2018-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC5894961?pdf=render

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http://europepmc.org/articles/PMC5894961?pdf=render

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