Associated Papers
A novel RPE65 variant p.(Ala391Asp) in Leber congenital amaurosis: a case report and literature review in Japan.
Higa N et al.
Frontiers in Medicine, 2024
Tyrosinase-Cre-Mediated Deletion of the Autophagy Gene Atg7 Leads to Accumulation of the RPE65 Variant M450 in the Retinal Pigment Epithelium of C57BL/6 Mice.
Sukseree S et al.
Plos One, 2016
Impact of retinal disease-associated RPE65 mutations on retinoid isomerization.
Bereta G et al.
Biochemistry, 2008
Effect of Leu/Met variation at residue 450 on isomerase activity and protein expression of RPE65 and its modulation by variation at other residues.
Redmond TM et al.
Molecular Vision, 2007
A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers.
Kondo H et al.
Investigative Ophthalmology & Visual Science, 2004
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