title: A novel de novo point mutation in the GTP cyclohydrolase I gene in a Japanese patient with hereditary progressive and dopa responsive dystonia.
authors.forename: R
authors.initials: R
authors.lastname: Sasaki
authors.forename: Y
authors.initials: Y
authors.lastname: Naito
authors.forename: S
authors.initials: S
authors.lastname: Kuzuhara
mesh_terms: 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*
chemical_list: D007980:Levodopa; D006136:GTP Cyclohydrolase