Mutations in RPE65 cause Leber's congenital amauro...[Nat Genet. 1997]

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1: Nat Genet. 1997 Oct;17(2):139-41. Links

Mutations in RPE65 cause Leber's congenital amaurosis.

PMID: 9326927 [PubMed - indexed for MEDLINE]

Mutational analysis and clinical correlation in Leber congenital amaurosis.
Ophthalmic Genet. 2000 Sep; 21(3):135-50.

[Ophthalmic Genet. 2000]
Mutation analysis of 3 genes in patients with Leber congenital amaurosis.
Arch Ophthalmol. 2000 Apr; 118(4):538-43.

[Arch Ophthalmol. 2000]
Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis.
Am J Hum Genet. 1999 Apr; 64(4):1225-8.

[Am J Hum Genet. 1999]
ReviewLeber congenital amaurosis.
Mol Genet Metab. 1999 Oct; 68(2):200-8.

[Mol Genet Metab. 1999]
ReviewLeber's congenital amaurosis and RPE65.
Int Ophthalmol Clin. 2001 Winter; 41(1):73-82.

[Int Ophthalmol Clin. 2001]
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Quantitative mapping of ion channel regulation by visual cycle activity in rodent photoreceptors in vivo.
Berkowitz BA, Roberts R, Oleske DA, Chang M, Schafer S, Bissig D, Gradianu M. Invest Ophthalmol Vis Sci. 2009 Apr; 50(4):1880-5. Epub 2008 Dec 5.

[Invest Ophthalmol Vis Sci. 2009]
Differential neuroglycan C expression during retinal degeneration in Rpe65-/- mice.
Escher P, Cottet S, Aono S, Oohira A, Schorderet DF. Mol Vis. 2008; 14:2126-35. Epub 2008 Nov 26.

[Mol Vis. 2008]
Mutation survey of known LCA genes and loci in the Saudi Arabian population.
Li Y, Wang H, Peng J, Gibbs RA, Lewis RA, Lupski JR, Mardon G, Chen R. Invest Ophthalmol Vis Sci. 2009 Mar; 50(3):1336-43. Epub 2008 Oct 20.

[Invest Ophthalmol Vis Sci. 2009]
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