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

Purpose. To delineate the clinical and genetic characteristics of Chinese patients with RPGRIP1-associated Leber congenital amaurosis 6 (LCA6). Methods. After screening 352 unrelated families with clinically diagnosed RP, five LCA6 patients with RPGRIP1 variations from unrelated Chinese families wer...

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Autores principales: Yumei Mao, Yanling Long, Bo Liu, Qingling Cao, Yijian Li, Sha Li, Gang Wang, Xiaohong Meng, Shiying Li
Formato: article
Lenguaje:EN
Publicado: Hindawi Limited 2021
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Acceso en línea:https://doaj.org/article/da47a5a1ddc64b35975ead9c982de719
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