A novel mutation in PRPF31, causative of autosomal dominant retinitis pigmentosa, using the BGISEQ-500 sequencer

AIM: To study the genes responsible for retinitis pigmentosa. METHODS: A total of 15 Chinese families with retinitis pigmentosa, containing 94 sporadically afflicted cases, were recruited. The targeted sequences were captured using the Target_Eye_365_V3 chip and sequenced using the BGISEQ-500 sequen...

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Vydáno v:Int J Ophthalmol
Hlavní autoři: Zheng, Yu, Wang, Hai-Lin, Li, Jian-Kang, Xu, Li, Tellier, Laurent, Li, Xiao-Lin, Huang, Xiao-Yan, Li, Wei, Niu, Tong-Tong, Yang, Huan-Ming, Zhang, Jian-Guo, Liu, Dong-Ning
Médium: Artigo
Jazyk:Inglês
Vydáno: International Journal of Ophthalmology Press 2018
Témata:
Basic Research
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5767654/
https://ncbi.nlm.nih.gov/pubmed/29375987
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.18240/ijo.2018.01.06
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