NMNAT1 E257K variant, associated with Leber Congenital Amaurosis (LCA9), causes a mild retinal degeneration phenotype
NMNAT1 E257K 变异与莱伯先天性黑蒙症 (LCA9) 相关,导致轻度视网膜变性表型
期刊:Experimental Eye Research
影响因子:2.7
doi:10.1016/j.exer.2018.04.010
Eblimit, Aiden; Zaneveld, Smriti Agrawal; Liu, Wei; Thomas, Kandace; Wang, Keqing; Li, Yumei; Mardon, Graeme; Chen, Rui