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
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 | Purpose | |
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27379 | pEGFP-mCep290 |
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27380 | pmCherry-Cep290 |
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27381 | FLAG-mCep290 |
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