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Promoter analysis of RPE65, the gene encoding a 61-kDa retinal pigment epithelium-specific protein.
Invest Ophthalmol Vis Sci. 1998 Mar;39(3):637-44.
Invest Ophthalmol Vis Sci. 1998.
PMID: 9501877
Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy.
Gu SM, Thompson DA, Srikumari CR, Lorenz B, Finckh U, Nicoletti A, Murthy KR, Rathmann M, Kumaramanickavel G, Denton MJ, Gal A.
Gu SM, et al.
Nat Genet. 1997 Oct;17(2):194-7. doi: 10.1038/ng1097-194.
Nat Genet. 1997.
PMID: 9326941
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Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis.
Simovich MJ, Miller B, Ezzeldin H, Kirkland BT, McLeod G, Fulmer C, Nathans J, Jacobson SG, Pittler SJ.
Simovich MJ, et al.
Hum Mutat. 2001 Aug;18(2):164. doi: 10.1002/humu.1168.
Hum Mutat. 2001.
PMID: 11462243
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