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Identification of a novel mutation in the ABCA4 gene in a Chinese family with retinitis pigmentosa using exome sequencing

Retinitis pigmentosa (RP) is a group of hereditary, degenerative retinal disorders characterized by progressive retinal dysfunction, outer retina cell loss, and retinal tissue atrophy. It eventually leads to tunnel vision and legal or total blindness. Here, we aimed to reveal the causal gene and mut...

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Detalles Bibliográficos
Autores principales:	Huang, Xiangjun, Yuan, Lamei, Xu, Hongbo, Zheng, Wen, Cao, Yanna, Yi, Junhui, Guo, Yi, Yang, Zhijian, Li, Yu, Deng, Hao
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Portland Press Ltd. 2018
Materias:	Research Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5857910/ https://www.ncbi.nlm.nih.gov/pubmed/29437900 http://dx.doi.org/10.1042/BSR20171300

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