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

Author： Chang Bo   Khanna Hemant   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  

Publisher： Oxford University Press

ISSN： 1460-2083

Source： Human Molecular Genetics, Vol.15, Iss.11, 2006-06, pp. : 1847-1857

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