Autosomal recessive retinitis pigmentosa due to ABCA4 mutations: clinical, pathologic, and molecular characterization.
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Harnessing the Potential of Human Pluripotent Stem Cells and Gene Editing for the Treatment of Retinal Degeneration.Psychophysical measurement of rod and cone thresholds in stargardt disease with full-field stimuliA profile of transcriptomic changes in the rd10 mouse model of retinitis pigmentosa.Vitritis in pediatric genetic retinal disordersHistopathological comparison of eyes from patients with autosomal recessive retinitis pigmentosa caused by novel EYS mutations.Reduced macular function in ABCA4 carriers.Complex inheritance of ABCA4 disease: four mutations in a family with multiple macular phenotypes.cGMP production of patient-specific iPSCs and photoreceptor precursor cells to treat retinal degenerative blindnessA novel PRPF31 mutation in a large Chinese family with autosomal dominant retinitis pigmentosa and macular degeneration.Association between genotype and phenotype in families with mutations in the ABCA4 gene.Inner and outer retinal changes in retinal degenerations associated with ABCA4 mutations.Gene therapy for retinal diseaseStem cells for investigation and treatment of inherited retinal disease.Homozygosity mapping guided next generation sequencing to identify the causative genetic variation in inherited retinal degenerative diseases.HYPERREFLECTIVE DEPOSITION IN THE BACKGROUND OF ADVANCED STARGARDT DISEASE.Using CRISPR-Cas9 to Generate Gene-Corrected Autologous iPSCs for the Treatment of Inherited Retinal Degeneration.Full-field ERG as a predictor of the natural course of ABCA4-associated retinal degenerations.Identification of a Novel Mutation in the ABCA4 Gene in a Chinese Family with Retinitis Pigmentosa Using Exome Sequencing.Current Advances in Pharmacotherapy and Technology for Diabetic Retinopathy: A Systematic Review.The Rapid-Onset Chorioretinopathy Phenotype of ABCA4 Disease.Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosaExpanding the Mutation Spectrum in : Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt CohortAdvanced molecular approaches pave the road to a clear-cut diagnosis of hereditary retinal dystrophies
P2860
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P2860
Autosomal recessive retinitis pigmentosa due to ABCA4 mutations: clinical, pathologic, and molecular characterization.
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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 18 April 2012
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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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name
Autosomal recessive retinitis ...... nd molecular characterization.
@en
Autosomal recessive retinitis ...... nd molecular characterization.
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type
label
Autosomal recessive retinitis ...... nd molecular characterization.
@en
Autosomal recessive retinitis ...... nd molecular characterization.
@nl
prefLabel
Autosomal recessive retinitis ...... nd molecular characterization.
@en
Autosomal recessive retinitis ...... nd molecular characterization.
@nl
P2093
P2860
P356
P1476
Autosomal recessive retinitis ...... and molecular characterization
@en
P2093
Edwin M Stone
Emily I Schindler
G Stephanie Enriquez
Gabriel H Travis
Jade S East
Roxana A Radu
P2860
P304
P356
10.1167/IOVS.12-9477
P407
P577
2012-04-18T00:00:00Z