Whole exome sequencing analysis identifies novel Stargardt disease-related gene mutations in Chinese Stargardt disease and retinitis pigmentosa patients

Objectives To delineate the disease-causing mutations of the Stargardt disease-related genes in Chinese patients diagnosed with Stargardt disease or retinitis pigmentosa (RP) by whole exome sequencing analysis. Methods A total of 123 sporadic RP or Stargardt disease patients and 2 Stargardt disease...

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Veröffentlicht in:Eye (London) 2022-04, Vol.36 (4), p.749-759
Hauptverfasser: Ng, Tsz Kin, Cao, Yingjie, Yuan, Xiang-Ling, Chen, Shaowan, Xu, Yanxuan, Chen, Shao-Lang, Zheng, Yuqian, Chen, Haoyu
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Sprache:eng
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