Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis
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Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trialCrystal structure of native RPE65, the retinoid isomerase of the visual cycleIdentification of key residues determining isomerohydrolase activity of human RPE65Membrane-binding and enzymatic properties of RPE65Chemistry of the retinoid (visual) cycleA novel mutation in the RPE65 gene causing Leber congenital amaurosis and its transcriptional expression in vitroPredicting the pathogenicity of RPE65 mutations.Homozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistan.Negative charge of the glutamic acid 417 residue is crucial for isomerohydrolase activity of RPE65.Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success.The retinal pigment epithelium in health and diseaseMutation of key residues of RPE65 abolishes its enzymatic role as isomerohydrolase in the visual cycle.The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practiceLeber congenital amaurosis: a genetic paradigm.Impact of retinal disease-associated RPE65 mutations on retinoid isomerization.The molecular basis of retinal dystrophies in pakistan.Low prevalence of lecithin retinol acyltransferase mutations in patients with Leber congenital amaurosis and autosomal recessive retinitis pigmentosa.Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypesScreening of the RPE65 gene in the Asian Indian patients with leber congenital amaurosis.Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration.Enhancing Understanding of the Visual Cycle by Applying CRISPR/Cas9 Gene Editing in Zebrafish.
P2860
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P2860
Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis
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2001 nî lūn-bûn
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2001 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2001年の論文
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2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
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name
Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis
@ast
Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis
@en
Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis
@nl
type
label
Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis
@ast
Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis
@en
Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis
@nl
prefLabel
Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis
@ast
Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis
@en
Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis
@nl
P2093
P356
P1433
P1476
Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis
@en
P2093
Ezzeldin H
Jacobson SG
Kirkland BT
Simovich MJ
P356
10.1002/HUMU.1168
P407
P577
2001-08-01T00:00:00Z