Article
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.
Human molecular genetics - 1 Jun 2006
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
Abstract excerpt
Centrosome- and cilia-associated proteins play crucial roles in establishing polarity and regulating intracellular transport in post-mitotic cells. Using genetic mapping and positional candidate strategy, we have identified an in-frame deletion in a novel centrosomal protein CEP290 (also called N...
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