centrosomal protein of 290 kDa isoform X11 [Rattus norvegicus]

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Frequency of CEP290 c.2991_1655A>G mutation in 175 Spanish families affected with Leber congenital amaurosis and early-onset retinitis pigmentosa. [Mol Vis. 2007]
Frequency of CEP290 c.2991_1655A>G mutation in 175 Spanish families affected with Leber congenital amaurosis and early-onset retinitis pigmentosa.
Vallespin E, Lopez-Martinez MA, Cantalapiedra D, Riveiro-Alvarez R, Aguirre-Lamban J, Avila-Fernandez A, Villaverde C, Trujillo-Tiebas MJ, Ayuso C. Mol Vis. 2007 Nov 27; 13:2160-2. Epub 2007 Nov 27.
Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome. [Hum Mutat. 2008]
Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome.
Frank V, den Hollander AI, Brüchle NO, Zonneveld MN, Nürnberg G, Becker C, Du Bois G, Kendziorra H, Roosing S, Senderek J, et al. Hum Mutat. 2008 Jan; 29(1):45-52.
Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome. [J Med Genet. 2007]
Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome.
Helou J, Otto EA, Attanasio M, Allen SJ, Parisi MA, Glass I, Utsch B, Hashmi S, Fazzi E, Omran H, et al. J Med Genet. 2007 Oct; 44(10):657-63. Epub 2007 Jul 6.

RefSeq protein isoforms
See 14 reference sequence protein isoforms for the Cep290 gene.

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Protein