title: Novel human pathological mutations. Gene symbol: GCH1. Disease: dystonia, dopa-responsive.
authors.affiliation: Department of Neurology, West China Hospital, Sichuan University, Chengdu, China PR. hufayun2006@163.com
authors.forename: Fayun
authors.initials: F
authors.lastname: Hu
authors.forename: Yanming
authors.initials: Y
authors.lastname: Xu
authors.forename: Dong
authors.initials: D
authors.lastname: Zhou
authors.forename: Xianghua
authors.initials: X
authors.lastname: He
authors.forename: Lihua
authors.initials: L
authors.lastname: Yu
mesh_terms: D019943:Amino Acid Substitution; D001483:Base Sequence; D003062:Codon / Q000235:genetics; D020821:Dystonic Disorders / Q000201:enzymology / Q000235:genetics; D006136:GTP Cyclohydrolase / Q000235:genetics*; D006801:Humans; D020125:Mutation, Missense
chemical_list: D003062:Codon; D006136:GTP Cyclohydrolase