CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium
Author:
Publisher
Oxford University Press (OUP)
Subject
Genetics (clinical),Genetics,Molecular Biology,General Medicine
Link
http://academic.oup.com/hmg/article-pdf/17/23/3796/17245667/ddn277.pdf
Reference30 articles.
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2. The ciliopathies: an emerging class of human genetic disorders;Badano;Annu. Rev. Genomics Hum. Genet.,2006
3. Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome;Valente;Nat. Genet.,2006
4. The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4;Sayer;Nat. Genet.,2006
5. Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis;den Hollander;Am. J. Hum. Genet.,2006
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