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Volumn 52, Issue 1, 2001, Pages 59-60
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A novel nonsense mutation of the GTP cyclohydrolase I gene in a family with dopa-responsive dystonia
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Author keywords
Dopa responsive dystonia; GTP cyclohydrolase I (GCH1); Nonsense mutation; PCR sequencing
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Indexed keywords
CYTOSINE;
GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I;
LEVODOPA;
THYMINE;
AMINO ACID SUBSTITUTION;
ARTICLE;
CHILD;
CLINICAL ARTICLE;
DYSTONIA;
EXON;
FEMALE;
GENE;
GENE AMPLIFICATION;
GENE MUTATION;
GENE SEQUENCE;
GTP CYCLOHYDROLASE 1 GENE;
HUMAN;
MALE;
NONSENSE MUTATION;
PARKINSONISM;
POLYMERASE CHAIN REACTION;
CHILD;
CODON, NONSENSE;
DNA MUTATIONAL ANALYSIS;
DYSTONIA;
EXONS;
FEMALE;
GTP CYCLOHYDROLASE;
HUMANS;
LEVODOPA;
MALE;
PEDIGREE;
POLYMERASE CHAIN REACTION;
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EID: 0035006509
PISSN: 00015652
EISSN: None
Source Type: Journal
DOI: 10.1159/000053355 Document Type: Article |
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Times cited : (4)
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References (3)
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