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

Ссылки: