No abstract available
MeSH terms
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Adult
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Base Composition / genetics
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Biopterins / analogs & derivatives
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Biopterins / cerebrospinal fluid
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Biopterins / deficiency
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Chromosome Aberrations
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Chromosome Deletion
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DNA Mutational Analysis*
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Dopamine / cerebrospinal fluid
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Dystonic Disorders / diagnosis
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Dystonic Disorders / genetics*
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Exons / genetics
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Female
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Fibroblasts / metabolism
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Frameshift Mutation
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GTP Cyclohydrolase / genetics*
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Genes, Dominant / genetics
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Guanine Nucleotides / genetics
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Heterozygote
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Humans
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Mutagenesis, Insertional
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Neopterin / cerebrospinal fluid
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Sequence Analysis, DNA
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Sequence Analysis, Protein
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Serotonin / cerebrospinal fluid
Substances
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Guanine Nucleotides
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Biopterins
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Serotonin
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Neopterin
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GTP Cyclohydrolase
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sapropterin
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Dopamine