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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 seque...

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Principais autores: Yu Zheng, Hai-Lin Wang, Jian-Kang Li, Li Xu, Laurent Tellier, Xiao-Lin Li, Xiao-Yan Huang, Wei Li, Tong-Tong Niu, Huan-Ming Yang, Jian-Guo Zhang, Dong-Ning Liu
Formato: Artigo
Idioma:Inglês
Publicado em: Press of International Journal of Ophthalmology (IJO PRESS) 2018-01-01
coleção:International Journal of Ophthalmology
Assuntos:
35
retinitis pigmentosa
PRPF31
BGISEQ-500
Acesso em linha:http://www.ijo.cn/en_publish/2018/1/20180106.pdf
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