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Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy.
Nat Genet. 1997 Oct;17(2):194-7. doi: 10.1038/ng1097-194.
Nat Genet. 1997.
PMID: 9326941
Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.
Hanein S, Perrault I, Gerber S, Tanguy G, Barbet F, Ducroq D, Calvas P, Dollfus H, Hamel C, Lopponen T, Munier F, Santos L, Shalev S, Zafeiriou D, Dufier JL, Munnich A, Rozet JM, Kaplan J.
Hanein S, et al.
Hum Mutat. 2004 Apr;23(4):306-17. doi: 10.1002/humu.20010.
Hum Mutat. 2004.
PMID: 15024725
Free article.
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Severe Loss of Tritan Color Discrimination in RPE65 Associated Leber Congenital Amaurosis.
Kumaran N, Ripamonti C, Kalitzeos A, Rubin GS, Bainbridge JWB, Michaelides M.
Kumaran N, et al.
Invest Ophthalmol Vis Sci. 2018 Jan 1;59(1):85-93. doi: 10.1167/iovs.17-22905.
Invest Ophthalmol Vis Sci. 2018.
PMID: 29332120
Free PMC article.
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Impacts of two point mutations of RPE65 from Leber's congenital amaurosis on the stability, subcellular localization and isomerohydrolase activity of RPE65.
Chen Y, Moiseyev G, Takahashi Y, Ma JX.
Chen Y, et al.
FEBS Lett. 2006 Jul 24;580(17):4200-4. doi: 10.1016/j.febslet.2006.06.078. Epub 2006 Jul 5.
FEBS Lett. 2006.
PMID: 16828753
Free article.
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