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Year | Number of Results |
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2008 | 2 |
2009 | 1 |
2019 | 1 |
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Focus on Molecules: RPE65, the visual cycle retinol isomerase.
Exp Eye Res. 2009 May;88(5):846-7. doi: 10.1016/j.exer.2008.07.015. Epub 2008 Aug 14.
Exp Eye Res. 2009.
PMID: 18762184
Free PMC article.
Review.
No abstract available.
A comprehensive clinical and biochemical functional study of a novel RPE65 hypomorphic mutation.
Lorenz B, Poliakov E, Schambeck M, Friedburg C, Preising MN, Redmond TM.
Lorenz B, et al.
Invest Ophthalmol Vis Sci. 2008 Dec;49(12):5235-42. doi: 10.1167/iovs.07-1671. Epub 2008 Jul 3.
Invest Ophthalmol Vis Sci. 2008.
PMID: 18599565
Free PMC article.
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Aberrant RNA splicing is the major pathogenic effect in a knock-in mouse model of the dominantly inherited c.1430A>G human RPE65 mutation.
Li Y, Furhang R, Ray A, Duncan T, Soucy J, Mahdi R, Chaitankar V, Gieser L, Poliakov E, Qian H, Liu P, Dong L, Rogozin IB, Redmond TM.
Li Y, et al.
Hum Mutat. 2019 Apr;40(4):426-443. doi: 10.1002/humu.23706. Epub 2019 Jan 25.
Hum Mutat. 2019.
PMID: 30628748
Free PMC article.
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