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Genetic analysis of Chinese families reveals a novel truncation allele of the retinitis pigmentosa GTPase regulator gene 被引量:1
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作者 Fang hu Xiang-Yun Zeng +7 位作者 Lin-Lin Liu Yao-Ling Luo Yi-Ping Jiang hui Wang Jing Xie cheng-quan hu Lin Gan Liang huang 《International Journal of Ophthalmology(English edition)》 SCIE CAS 2014年第5期753-758,共6页
AIMTo make comprehensive molecular diagnosis for retinitis pigmentosa (RP) patients in a consanguineous Han Chinese family using next generation sequencing based Capture-NGS screen technology.
关键词 retinitis pigmentosa GTPase regulator retinitis pigmentosa next-generation sequencing genetic diagnosis
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