No abstract available
Keywords:
Dystonia; Nonsense mutation; Nonsense-mediated mRNA decay; Reduced penetrance; THAP1.
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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Adult
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Aged
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Aged, 80 and over
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Apoptosis Regulatory Proteins / genetics*
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Apoptosis Regulatory Proteins / metabolism
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Codon, Nonsense
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DNA-Binding Proteins / genetics*
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DNA-Binding Proteins / metabolism
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Dystonic Disorders / genetics*
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Dystonic Disorders / physiopathology*
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Female
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Gene Expression / 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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Pedigree
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Penetrance
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Young Adult
Substances
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Apoptosis Regulatory Proteins
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Codon, Nonsense
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DNA-Binding Proteins
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THAP1 protein, human