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Ocular Characteristics of Patients with Leber Congenital Amaurosis 6 Caused by Pathogenic RPGRIP1 Gene Variation in a Chinese Cohort.

Yumei Mao,Yanling Long,Bo Liu, Qingling Cao, Yijian Li,Sha Li,Gang Wang,Xiaohong Meng,Shiying Li

Journal of ophthalmology（2021）

Cited 3|Views17
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Abstract
This is the largest report focused on the clinical electrophysiological features of patients with associated LCA6 caused by the variation in the gene in the Chinese population with an enriched phenotypic and genotypic background of LCA6 to improve future gene therapies.
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Key words
leber congenital amaurosis,pathogenic rpgrip1 gene variation,ocular characteristics
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