Xiaoliao Peng1, Xuejun Wang1, Yuliang Wang1

  • 1Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai, 200031, China; NHC Key Laboratory of Myopia (Fudan University), Key Laboratory of Myopia, Chinese Academy of Medical Sciences, Shanghai, 200031, China; Shanghai Research Center of Ophthalmology and Optometry, China; Shanghai Engineering Research Center of Laser and Autostereoscopic 3D for Vision Care (20DZ2255000), China.

Experimental eye research
|February 21, 2025
PubMed
概括

在一个患有视网膜色素炎 (RP) 的家族中,发现了进步性棒退化 (PRCD) 基因的新型框架转移突变 (c.67del). 这种遗传缺陷导致视网膜退化,在小鼠模型中得到证实.