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Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis.
Am J Hum Genet. 2006 Sep;79(3):556-61. doi: 10.1086/507318. Epub 2006 Jul 11.
Am J Hum Genet. 2006.
PMID: 16909394
Free PMC article.
Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype.
Perrault I, Delphin N, Hanein S, Gerber S, Dufier JL, Roche O, Defoort-Dhellemmes S, Dollfus H, Fazzi E, Munnich A, Kaplan J, Rozet JM.
Perrault I, et al.
Hum Mutat. 2007 Apr;28(4):416. doi: 10.1002/humu.9485.
Hum Mutat. 2007.
PMID: 17345604
Item in Clipboard
CEP290, a gene with many faces: mutation overview and presentation of CEP290base.
Coppieters F, Lefever S, Leroy BP, De Baere E.
Coppieters F, et al.
Hum Mutat. 2010 Oct;31(10):1097-108. doi: 10.1002/humu.21337.
Hum Mutat. 2010.
PMID: 20690115
Review.
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Mutation analysis of Leber congenital amaurosis‑associated genes in patients with retinitis pigmentosa.
Shen T, Guan L, Li S, Zhang J, Xiao X, Jiang H, Yang J, Guo X, Wang J, Zhang Q.
Shen T, et al.
Mol Med Rep. 2015 Mar;11(3):1827-32. doi: 10.3892/mmr.2014.2894. Epub 2014 Nov 7.
Mol Med Rep. 2015.
PMID: 25377065
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Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease.
Stone EM, Andorf JL, Whitmore SS, DeLuca AP, Giacalone JC, Streb LM, Braun TA, Mullins RF, Scheetz TE, Sheffield VC, Tucker BA.
Stone EM, et al.
Ophthalmology. 2017 Sep;124(9):1314-1331. doi: 10.1016/j.ophtha.2017.04.008. Epub 2017 May 27.
Ophthalmology. 2017.
PMID: 28559085
Free PMC article.
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