New nonsense mutation in the GTP-cyclohydrolase I gene in L-DOPA responsive dystonia-parkinsonism.
Hoenicka
J
J
Banco de Tejidos para Investigaciones Neurológicas, Facultad de Medicina, Universidad Complutense de Madrid, Madrid, Spain. Jhoenicka@trasto.cbm.uam.es
Vidal
L
L
Godoy
M
M
Ochoa
J J
JJ
García de Yébenes
J
J
D000328:Adult; D000368:Aged; D000978:Antiparkinson Agents / Q000008:administration & dosage / Q000627:therapeutic use*; D018389:Codon, Nonsense / Q000235:genetics*; D004252:DNA Mutational Analysis; D004421:Dystonia / Q000188:drug therapy / Q000201:enzymology / Q000235:genetics; D005260:Female; D006136:GTP Cyclohydrolase / Q000235:genetics* / Q000378:metabolism*; D015870:Gene Expression / Q000235:genetics; D006801:Humans; D007980:Levodopa / Q000008:administration & dosage / Q000627:therapeutic use*; D008297:Male; D020734:Parkinsonian Disorders / Q000188:drug therapy / Q000201:enzymology / Q000235:genetics; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*
D000978:Antiparkinson Agents; D018389:Codon, Nonsense; D007980:Levodopa; D006136:GTP Cyclohydrolase