Abstract
Distonia temprana poco frecuente (DYT16) en una niña portuguesa.
MeSH terms
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Age of Onset
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Brazil / ethnology
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Child
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Consanguinity
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Disease Progression
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Dystonic Disorders / genetics*
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Exons / genetics
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Female
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Homozygote
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Humans
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Mutation, Missense*
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Point Mutation*
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Portugal
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RNA-Binding Proteins / genetics*
Substances
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PRKRA protein, human
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RNA-Binding Proteins