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From onset to blindness: a comprehensive analysis of RPGR -associated X-linked retinopathy in a large cohort in China.

Jiawen WuJunfeng LiDaowei ZhangHong-Li LiuTing LiPing XuYingke ZhaoChenchen LiFangyuan HuQian LiShenghai ZhangJi-Hong Wu
Published in: Journal of medical genetics (2024)
We provide a foundation for determining the treatment window and an objective basis for evaluating the therapeutic efficacy of gene therapy for XLRP.
Keyphrases
  • genome wide
  • copy number
  • transcription factor
  • replacement therapy