title: A new mutation (Thr106Ile) of the GTP cyclohydrolase 1 gene associated with DYT5 dystonia (Segawa disease).
authors.forename: Etsuro
authors.initials: E
authors.lastname: Ohta
authors.forename: Itaru
authors.initials: I
authors.lastname: Toyoshima
authors.forename: Manabu
authors.initials: M
authors.lastname: Funayama
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Ichinose
authors.forename: Kazuko
authors.initials: K
authors.lastname: Hasegawa
authors.forename: Fumiya
authors.initials: F
authors.lastname: Obata
mesh_terms: D000328:Adult; D002648:Child; D004252:DNA Mutational Analysis / Q000379:methods; D020821:Dystonic Disorders / Q000235:genetics*; D005091:Exons; D005260:Female; D006136:GTP Cyclohydrolase / Q000235:genetics*; D006801:Humans; D007532:Isoleucine / Q000235:genetics*; D009154:Mutation; D013912:Threonine / Q000235:genetics*
chemical_list: D007532:Isoleucine; D013912:Threonine; D006136:GTP Cyclohydrolase