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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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Detalhes bibliográficos
Publicado no:Biosci Rep
Main Authors: Huang, Xiangjun, Yuan, Lamei, Xu, Hongbo, Zheng, Wen, Cao, Yanna, Yi, Junhui, Guo, Yi, Yang, Zhijian, Li, Yu, Deng, Hao
Formato: Artigo
Idioma:Inglês
Publicado em: Portland Press Ltd. 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5857910/
https://ncbi.nlm.nih.gov/pubmed/29437900
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1042/BSR20171300
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