A novel mutation (c.64_65delGGinsAACC [p.G21fsX66]) in the GTP cyclohydrolase 1 gene that causes Segawa disease.
von Mering
M
M
Gabriel
H
H
Opladen
T
T
Hoffmann
G F
GF
Storch
A
A
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
D006150:Guanine Nucleotides; D001708:Biopterins; D012701:Serotonin; D019798:Neopterin; D006136:GTP Cyclohydrolase; C003402:sapropterin; D004298:Dopamine