Variant: rs104894433 

    present in Gene: GCH1
    present in Chromosome: 14
    Position on Chromosome: 54902402
    Alleles of this Variant: G/A;C;T

rs104894433 in GCH1 gene and Dopa-Responsive Dystonia PMID 7874165 1994 Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene.

PMID 10825351 2000 Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations?

PMID 10582612 1999 Characterization of wild-type and mutants of recombinant human GTP cyclohydrolase I: relationship to etiology of dopa-responsive dystonia.

PMID 9120469 1997 A novel point mutation in the GTP cyclohydrolase I gene in a Spanish family with hereditary progressive and dopa responsive dystonia.

PMID 8957022 1996 Mutant GTP cyclohydrolase I mRNA levels contribute to dopa-responsive dystonia onset.

PMID 17101830 2006 Novel mutations in the guanosine triphosphate cyclohydrolase 1 gene associated with DYT5 dystonia.

PMID 10076897 1999 A novel missense mutant inactivates GTP cyclohydrolase I in dopa-responsive dystonia.

PMID 9778264 1998 Dopa-responsive dystonia: a clinical and molecular genetic study.

PMID 8852666 1996 Dopa-responsive dystonia in British patients: new mutations of the GTP-cyclohydrolase I gene and evidence for genetic heterogeneity.

PMID 7501255 1995 GTP cyclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation.

PMID 10208576 1999 A new GTP-cyclohydrolase I mutation in an unusual dopa-responsive dystonia, familial form.

PMID 10987649 1999 Dopa-responsive dystonia induced by a recessive GTP cyclohydrolase I mutation.

PMID 20482602 2011 EFNS guidelines on diagnosis and treatment of primary dystonias.

PMID 11113234 2000 Dopa-responsive dystonia: mutation analysis of GCH1 and analysis of therapeutic doses of L-dopa. German Dystonia Study Group.

PMID 9328244 1997 GTP cyclohydrolase I mutations in patients with dystonia responsive to anticholinergic drugs.

PMID 12391354 2002 Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome.