Gene: [14q22/GCH1] GTP cyclohydrolase 1; dystonia, dopa-responsive (MIM:128230); progressive, with diurnal variation (Segawa syndrome; MIM:128230); phenylketonuria, atypical severe (due to GTP cyclohydrolase 1 deficiency; MIM:233910);
REF | MUT,PAT,HET
"Bandmann O &: Hum Mol Genet, 5, 403-406, 1996 LIN,LOC "Bartholome K &: AJHG, 53, A889-889, 1993 PAT "Dhondt J-L &: J Pediatr, 106, 954-956, 1985 PAT "Harwood G &: J Neurol Neurosurg Psychiat, 57, 460-463, 1994 MUT,PAT "Ichinose H &: JBC, 270, 10062-10071, 1995 MUT,PAT "Ichinose H &: Nature Genet, 8, 236-242, 1994 PAT "Kaufman S: J Inherit Metab Dis, 8, 20-27, 1985 PAT "Naylor EW &: Pediatrics, 79, 374-378, 1987 PAT "Niederwieser A &: J Inherit Metab Dis, 8, 34-38, 1985 LIN,LOC "Nygaard TG &: Nature Genet, 5, 386-391, 1993 LOC "Thony B &: Genomics, 26, 168-170, 1995 |
SWI | SWISSPROT: P30793 |
CLA | coding, basic |
LOC | 14 q22.1-.2 |
MIM | MIM: 600225 |
EZN | ENZYME: 3.5.4.16 |
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