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Article

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

PloS one - 1 Jan 2018

Huang Hui, Chen Yanhua, Chen Huishuang, Ma Yuanyuan, Chiang Pei-Wen, Zhong Jing, Liu Xuyang, Asan, Wu Jing, Su Yan, Li Xin, Deng Jianlian, Huang Yingping, Zhang Xinxin, Li Yang, Fan Ning, Wang Ying, Tang Lihui, Shen Jinting, Chen Meiyan, Zhang Xiuqing, Te Deng, Banerjee Santasree, Liu Hui, Qi Ming, Yi Xin

Abstract excerpt

BACKGROUND: 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 specific diseases. METHODS: A targeted gene capture panel was designed to capture exons of 283 inherited...

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PMID: 29641573
DOI: 10.1371/journal.pone.0185237
PMCID: PMC5894961

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