No abstract available
Keywords:
Acanthocytes; Chorea; Chorein; Choreoacanthocytosis; Eye.
Publication types
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Case Reports
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Letter
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Research Support, Non-U.S. Gov't
MeSH terms
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Abetalipoproteinemia / complications*
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Abetalipoproteinemia / genetics*
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Adult
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Asian People
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Cataract / etiology
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Chorea / complications*
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Chorea / genetics*
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DNA / genetics
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Eye Diseases / etiology*
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Eye Diseases / genetics*
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Humans
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Magnetic Resonance Imaging
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Male
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Mutation / genetics
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Polymerase Chain Reaction
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RNA, Messenger / biosynthesis
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RNA, Messenger / blood
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RNA, Messenger / genetics
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Retinal Detachment / etiology
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Siblings
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Vesicular Transport Proteins / genetics*
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Visual Acuity
Substances
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RNA, Messenger
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VPS13A protein, human
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Vesicular Transport Proteins
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DNA