New nonsense mutation in the GTP-cyclohydrolase I gene in L-DOPA responsive dystonia-parkinsonism.
Identifieur interne : 000489 ( Ncbi/Curation ); précédent : 000488; suivant : 000490New 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
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pubmed:11295799Le document en format XML
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Jhoenicka@trasto.cbm.uam.es</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Banco de Tejidos para Investigaciones Neurológicas, Facultad de Medicina, Universidad Complutense de Madrid, Madrid</wicri:regionArea><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName><orgName type="university">Université complutense de Madrid</orgName></affiliation></author><author><name sortKey="Vidal, L" sort="Vidal, L" uniqKey="Vidal L" first="L" last="Vidal">L. Vidal</name></author><author><name sortKey="Godoy, M" sort="Godoy, M" uniqKey="Godoy M" first="M" last="Godoy">M. Godoy</name></author><author><name sortKey="Ochoa, J J" sort="Ochoa, J J" uniqKey="Ochoa J" first="J J" last="Ochoa">J J Ochoa</name></author><author><name sortKey="Garcia De Yebenes, J" sort="Garcia De Yebenes, J" uniqKey="Garcia De Yebenes J" first="J" last="García De Yébenes">J. 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