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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Alleles
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Biopsy
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DNA / genetics*
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DNA Mutational Analysis
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Electroretinography
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Glycogen Storage Disease Type V / complications*
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Glycogen Storage Disease Type V / diagnosis
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Glycogen Storage Disease Type V / genetics
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Heterozygote
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Humans
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Male
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Middle Aged
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Mutation*
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Peripherins / genetics*
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Peripherins / metabolism
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Retinal Diseases / diagnosis
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Retinal Diseases / etiology
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Retinal Diseases / genetics*
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Tomography, Optical Coherence
Substances
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PRPH2 protein, human
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Peripherins
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DNA