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

Bo Chang, Hemant Khanna, Norman Hawes, David Jimeno, Shirley He, Concepcion Lillo, Sunil K. Parapuram, Hong Cheng, Alison Scott, Ron E. Hurd, John A. Sayer, Edgar A. Otto, Massimo Attanasio, John F. O'Toole, Genglin Jin, Chengchao Shou, Friedhelm Hildebrandt, David S. Williams, John R. Heckenlively, Anand Swaroop

Research output: Contribution to journalArticlepeer-review

315 Scopus citations

Fingerprint

Dive into the research topics of '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'. Together they form a unique fingerprint.

Medicine & Life Sciences