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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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Podrobná bibliografie
Vydáno v:Biosci Rep
Hlavní autoři: Huang, Xiangjun, Yuan, Lamei, Xu, Hongbo, Zheng, Wen, Cao, Yanna, Yi, Junhui, Guo, Yi, Yang, Zhijian, Li, Yu, Deng, Hao
Médium: Artigo
Jazyk:Inglês
Vydáno: Portland Press Ltd. 2018
Témata:
On-line přístup: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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