In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse
一种新型中心体/纤毛蛋白 CEP290/NPHP6 的框内缺失会扰乱其与 RPGR 的相互作用，并导致 rd16 小鼠出现早发性视网膜变性。
期刊:Human Molecular Genetics
影响因子:3.2
doi:10.1093/hmg/ddl107
Chang, Bo; Khanna, Hemant; Hawes, Norman; Jimeno, David; He, Shirley; Lillo, Concepcion; Parapuram, Sunil K; Cheng, Hong; Scott, Alison; Hurd, Ron E; Sayer, John A; Otto, Edgar A; Attanasio, Massimo; O'Toole, John F; Jin, Genglin; Shou, Chengchao; Hildebrandt, Friedhelm; Williams, David S; Heckenlively, John R; Swaroop, Anand
