Genetic analysis of Chinese families reveals a novel truncation allele of the retinitis pigmentosa GTPase regulator gene
<b>AIM:</b> To make comprehensive molecular diagnosis for retinitis pigmentosa (RP) patients in a consanguineous Han Chinese family using next generation sequencing based Capture-NGS screen technology. <b>METHODS:</b> A five-generation Han Chinese family diagnosed as non-syn...
Main Authors: | Fang Hu, Xiang-Yun Zeng, Lin-Lin Liu, Yao-Ling Luo, Yi-Ping Jiang, Hui Wang, Jing Xie, Cheng-Quan Hu, Lin Gan, Liang Huang |
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Format: | Article |
Language: | English |
Published: |
Press of International Journal of Ophthalmology (IJO PRESS)
2014-10-01
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Series: | International Journal of Ophthalmology |
Subjects: | |
Online Access: | http://www.ijo.cn/en_publish/2014/5/20140502.pdf |
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