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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.
PubMed Article

Plasmids from Article

ID Plasmid  
27379pEGFP-mCep290
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27380pmCherry-Cep290
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27381FLAG-mCep290
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