Article
Identification of RPGR ORF15 mutation for X-linked retinitis pigmentosa in a large Chinese family and in vitro correction with prime editor.
Gene therapy - 1 Feb 2023
Lv Xiujuan, Zheng Zheng, Zhi Xiao, Zhou Yilin, Lv Jineng, Zhou Yue, Wu Binrong, Liu Sixiu, Shi Wei, Song Zongming, Xu Jinling, Qu Jia, Xu Dan, Gu Feng
Abstract excerpt
X-linked retinitis pigmentosa (XLRP) is the most severe form of Retinitis Pigmentosa (RP) and one of the leading causes of blindness in the world. Currently, there is no effective treatment for RP. In the present study, we recruited a XLRP family and identified a 4 bp deletion mutation (c. 2234_2237del) in RPGR ORF15 with Sanger sequencing, which was located in the exact same region as the missing XES (X...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.