Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome.
Valente EM, Silhavy JL, Brancati F, Barrano G, Krishnaswami SR, Castori M, Lancaster MA, Boltshauser E, Boccone L, Al-Gazali L, Fazzi E, Signorini S, Louie CM, Bellacchio E, Bertini E, Dallapiccola B, Gleeson JG
Nat Genet. 2006 Jun . 38(6):623-5.
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Plasmids from Article
| ID | Plasmid | Purpose |
|---|---|---|
| 27379 | pEGFP-mCep290 | |
| 27380 | pmCherry-Cep290 | |
| 27381 | FLAG-mCep290 |