RPGRORF15 Mutations Disrupt Lysosomal Lipid Metabolism in Retinal Pigment Epithelium Cells and Cause Retinitis Pigmentosa.
RPGRORF15 突变破坏视网膜色素上皮细胞的溶酶体脂质代谢,导致视网膜色素变性。
期刊:Investigative Ophthalmology & Visual Science
影响因子:4.7
doi:10.1167/iovs.66.14.61
Ren Mengmeng, Chen Xiang, Gao Pan, Huang Yukan, Yu Shanshan, Reilly James, Sun Kui, Han Yunqiao, Hu Hualei, Li Pei, Luo Jiong, Dai Liyan, Zhu Yuejie, Lu Qunwei, Shu Xinhua, Wang Shusheng, Ren Xiang, Tang Zhaohui, Liu Mugen