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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...
Autores principales: | Mao, Yumei, Long, Yanling, Liu, Bo, Cao, Qingling, Li, Yijian, Li, Sha, Wang, Gang, Meng, Xiaohong, Li, Shiying |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi
2021
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Materias: | |
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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