A novel de novo point mutation in the GTP cyclohydrolase I gene in a Japanese patient with hereditary progressive and dopa responsive dystonia.
Sasaki
R
R
Naito
Y
Y
Kuzuhara
S
S
D000483:Alleles; D002648:Child; D004421:Dystonia / Q000188:drug therapy* / Q000235:genetics*; D005260:Female; D006136:GTP Cyclohydrolase / Q000235:genetics*; D006801:Humans; D007564:Japan; D007980:Levodopa / Q000627:therapeutic use*; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*
D007980:Levodopa; D006136:GTP Cyclohydrolase