G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy
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Quantitative fundus autofluorescence distinguishes ABCA4-associated and non-ABCA4-associated bull's-eye maculopathy.Quantitative fundus autofluorescence in recessive Stargardt diseaseAbnormality in the external limiting membrane in early Stargardt diseaseMutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.Structural and genetic assessment of the ABCA4-associated optical gap phenotype.shRNA knockdown of guanylate cyclase 2e or cyclic nucleotide gated channel alpha 1 increases photoreceptor survival in a cGMP phosphodiesterase mouse model of retinitis pigmentosaCommon synonymous variants in ABCA4 are protective for chloroquine induced maculopathy (toxic maculopathy).Familial discordance in Stargardt disease.Reduced macular function in ABCA4 carriers.Transition zones between healthy and diseased retina in choroideremia (CHM) and Stargardt disease (STGD) as compared to retinitis pigmentosa (RP)Mice with a D190N mutation in the gene encoding rhodopsin: a model for human autosomal-dominant retinitis pigmentosaRetinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene.Correlation between photoreceptor layer integrity and visual function in patients with Stargardt disease: implications for gene therapy.Complex inheritance of ABCA4 disease: four mutations in a family with multiple macular phenotypes.Recessive Stargardt disease phenocopying hydroxychloroquine retinopathy.Functional Analysis of Retinal Flecks in Stargardt Disease.Association between genotype and phenotype in families with mutations in the ABCA4 gene.Allelic and phenotypic heterogeneity in ABCA4 mutations.Stargardt-Fundus flavimaculatus: recent advancements and treatment.Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration.Multimodal imaging of foveal cavitation in retinal dystrophies.Genotypic spectrum and phenotype correlations of ABCA4-associated disease in patients of south Asian descent.Predictors of visual acuity and genotype-phenotype correlates in a cohort of patients with Stargardt disease.HYPERREFLECTIVE DEPOSITION IN THE BACKGROUND OF ADVANCED STARGARDT DISEASE.Full-field ERG as a predictor of the natural course of ABCA4-associated retinal degenerations.Retinal Histopathology in Eyes from a Patient with Stargardt disease caused by Compound Heterozygous ABCA4 Mutations.The Rapid-Onset Chorioretinopathy Phenotype of ABCA4 Disease.Mutation Spectrum of the ABCA4 Gene in a Greek Cohort with Stargardt Disease: Identification of Novel Mutations and Evidence of Three Prevalent Mutated Alleles.Expanding the Mutation Spectrum in : Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort
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P2860
G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 13 February 2009
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy
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G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy.
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G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy
@en
G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy.
@nl
prefLabel
G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy
@en
G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy.
@nl
P2093
P2860
P1476
G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy
@en
P2093
Gaetano Barile
Jana Zernant-Rajang
Rando Allikmets
Stephen H Tsang
Theodore R Smith
Vivienne C Greenstein
Wener Cella
P2860
P356
10.1016/J.EXER.2009.02.001
P577
2009-02-13T00:00:00Z