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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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Detalles Bibliográficos
Autores principales:	Mao, Yumei, Long, Yanling, Liu, Bo, Cao, Qingling, Li, Yijian, Li, Sha, Wang, Gang, Meng, Xiaohong, Li, Shiying
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi 2021
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8595035/ https://www.ncbi.nlm.nih.gov/pubmed/34796026 http://dx.doi.org/10.1155/2021/9966427

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