title: A novel mutation (c.64_65delGGinsAACC [p.G21fsX66]) in the GTP cyclohydrolase 1 gene that causes Segawa disease.
authors.forename: M
authors.initials: M
authors.lastname: von Mering
authors.forename: H
authors.initials: H
authors.lastname: Gabriel
authors.forename: T
authors.initials: T
authors.lastname: Opladen
authors.forename: G F
authors.initials: GF
authors.lastname: Hoffmann
authors.forename: A
authors.initials: A
authors.lastname: Storch
mesh_terms: D000328:Adult; D001482:Base Composition / Q000235:genetics; D001708:Biopterins / Q000031:analogs & derivatives / Q000134:cerebrospinal fluid / Q000172:deficiency; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D004252:DNA Mutational Analysis; D004298:Dopamine / Q000134:cerebrospinal fluid; D020821:Dystonic Disorders / Q000175:diagnosis / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D016368:Frameshift Mutation; D006136:GTP Cyclohydrolase / Q000235:genetics*; D005799:Genes, Dominant / Q000235:genetics; D006150:Guanine Nucleotides / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D016254:Mutagenesis, Insertional; D019798:Neopterin / Q000134:cerebrospinal fluid; D017422:Sequence Analysis, DNA; D020539:Sequence Analysis, Protein; D012701:Serotonin / Q000134:cerebrospinal fluid
chemical_list: D006150:Guanine Nucleotides; D001708:Biopterins; D012701:Serotonin; D019798:Neopterin; D006136:GTP Cyclohydrolase; C003402:sapropterin; D004298:Dopamine