Novel mutations in PDE6B causing human retinitis pigmentosa

AIM: To identify the genetic defects of a Chinese patient with sporadic retinitis pigmentosa (RP). METHODS: Ophthalmologic examinations were performed on the sporadic RP patient, 144 genes associated with retinal diseases were scanned with capture next generation sequencing (CNGS) approach. Two hete...

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Detalhes bibliográficos
Publicado no:Int J Ophthalmol
Main Authors: Cheng, Lu-Lu, Han, Ru-Yi, Yang, Fa-Yu, Yu, Xin-Ping, Xu, Jin-Ling, Min, Qing-Jie, Tian, Jie, Ge, Xiang-Lian, Zheng, Si-Si, Lin, Ye-Wen, Zheng, Yi-Han, Qu, Jia, Gu, Feng
Formato: Artigo
Idioma:Inglês
Publicado em: International Journal of Ophthalmology Press 2016
Assuntos:
Basic Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4990571/
https://ncbi.nlm.nih.gov/pubmed/27588261
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.18240/ijo.2016.08.02
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