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Publications by C Makino
A Rhodopsin Gene Mutation Responsible for Autosomal Dominant Retinitis Pigmentosa Results in a Protein That Is Defective in Localization to the Photoreceptor Outer Segment
Journal of Neuroscience
Neuroscience
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Structural Development Study of a Novel Pharmacological Chaperone for Folding-Defective Rhodopsin Mutants Responsible for Retinitis Pigmentosa
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A Novel NR2E3 Gene Mutation in Autosomal Recessive Retinitis Pigmentosa With Cystic Maculopathy
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AAV Delivery of Wild-Type Rhodopsin Preserves Retinal Function in a Mouse Model of Autosomal Dominant Retinitis Pigmentosa
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Abnormal Dark Adaptation Kinetics in Autosomal Dominant Sector Retinitis Pigmentosa Due to Rod Opsin Mutation.
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Mutations in Known Genes Account for 58% of Autosomal Dominant Retinitis Pigmentosa (adRP)
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Novel Heterozygous C243Y A20/Tnfaip3 Gene Mutation Is Responsible for Chronic Inflammation in Autosomal-Dominant Behçet's Disease
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Phenotype-Genotype Correlations in Autosomal Dominant Retinitis Pigmentosa Caused by RHO, D190N
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Genomic Rearrangements of thePRPF31Gene Account for 2.5% of Autosomal Dominant Retinitis Pigmentosa
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High Prevalence of Mutations Affecting the Splicing Process in a Spanish Cohort With Autosomal Dominant Retinitis Pigmentosa
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Multidisciplinary
