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Whole exome sequencing identified novel CRB1 mutations in Chinese and Indian populations with autosomal recessive retinitis pigmentosa

Retinitis pigmentosa (RP) is a leading cause of inherited blindness characterized by progressive degeneration of the retinal photoreceptor cells. This study aims to identify genetic mutations in a Chinese family RP-2236, an Indian family RP-IC-90 and 100 sporadic Indian individuals with autosomal re...

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Detalles Bibliográficos
Autores principales:	Yang, Yin, Yang, Yeming, Huang, Lulin, Zhai, Yaru, Li, Jie, Jiang, Zhilin, Gong, Bo, Fang, Hao, Kim, Ramasamy, Yang, Zhenglin, Sundaresan, Periasamy, Zhu, Xianjun, Zhou, Yu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group 2016
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5037368/ https://www.ncbi.nlm.nih.gov/pubmed/27670293 http://dx.doi.org/10.1038/srep33681

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