No abstract available
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Calcium Channels, L-Type / genetics*
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Codon, Nonsense*
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Color Vision Defects / genetics
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DNA Mutational Analysis
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Electroretinography
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Female
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Genome-Wide Association Study
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Genotyping Techniques
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Humans
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Optical Imaging
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Pedigree
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Retinal Cone Photoreceptor Cells / pathology
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Retinal Dystrophies / diagnosis
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Retinal Dystrophies / genetics*
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Retinal Dystrophies / physiopathology
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Tomography, Optical Coherence
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Young Adult
Substances
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CACNA2D4 protein, human
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Calcium Channels, L-Type
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Codon, Nonsense