New nonsense mutation in the GTP-cyclohydrolase I gene in L-DOPA responsive dystonia-parkinsonism.
Identifieur interne : 003C88 ( PubMed/Checkpoint ); précédent : 003C87; suivant : 003C89New nonsense mutation in the GTP-cyclohydrolase I gene in L-DOPA responsive dystonia-parkinsonism.
Auteurs : J. Hoenicka [Espagne] ; L. Vidal ; M. Godoy ; J J Ochoa ; J. García De YébenesSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2001.
English descriptors
- KwdEn :
- Adult, Aged, Antiparkinson Agents (administration & dosage), Antiparkinson Agents (therapeutic use), Codon, Nonsense (genetics), DNA Mutational Analysis, Dystonia (drug therapy), Dystonia (enzymology), Dystonia (genetics), Female, GTP Cyclohydrolase (genetics), GTP Cyclohydrolase (metabolism), Gene Expression (genetics), Humans, Levodopa (administration & dosage), Levodopa (therapeutic use), Male, Parkinsonian Disorders (drug therapy), Parkinsonian Disorders (enzymology), Parkinsonian Disorders (genetics), Pedigree, Point Mutation (genetics).
- MESH :
- chemical , administration & dosage : Antiparkinson Agents, Levodopa.
- chemical , genetics : Codon, Nonsense, GTP Cyclohydrolase.
- chemical , metabolism : GTP Cyclohydrolase.
- chemical , therapeutic use : Antiparkinson Agents, Levodopa.
- drug therapy : Dystonia, Parkinsonian Disorders.
- enzymology : Dystonia, Parkinsonian Disorders.
- genetics : Dystonia, Gene Expression, Parkinsonian Disorders, Point Mutation.
- Adult, Aged, DNA Mutational Analysis, Female, Humans, Male, Pedigree.
PubMed: 11295799
Affiliations:
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pubmed:11295799Le document en format XML
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<author><name sortKey="Garcia De Yebenes, J" sort="Garcia De Yebenes, J" uniqKey="Garcia De Yebenes J" first="J" last="García De Yébenes">J. García De Yébenes</name>
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<term>DNA Mutational Analysis</term>
<term>Dystonia (drug therapy)</term>
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<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
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<ArticleTitle>New nonsense mutation in the GTP-cyclohydrolase I gene in L-DOPA responsive dystonia-parkinsonism.</ArticleTitle>
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