Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.M1_E2insFs
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GCH1

NM_000161.3:p.M1_E2insFs

Associated Papers

Is phenotypic variation of hereditary progressive dystonia with marked diurnal fluctuation/dopa-responsive dystonia (HPD/DRD) caused by the difference of the locus of mutation on the GTP cyclohydrolase 1 (GCH-1) gene?

Segawa M et al.

Advances in Neurology, 2004

Molecular genetics of dopa-responsive dystonia.

Ichinose H et al.

Biological Chemistry, 1999

[The relation between metabolism of biopterin and dystonia-parkinsonism].

Ichinose H et al.

Nihon Shinkei Seishin Yakurigaku Zasshi = Japanese Journal of Psychopharmacology, 1999

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

Brique S et al.

Neuroreport, 1999

Molecular biology of catecholamine-related enzymes in relation to Parkinson's disease.

Nagatsu T et al.

Cellular and Molecular Neurobiology, 1999

Regulation of pteridine-requiring enzymes by the cofactor tetrahydrobiopterin.

Nagatsu T et al.

Molecular Neurobiology, 1999

Molecular genetics of DOPA-responsive dystonia.

Ichinose H et al.

Advances in Neurology, 1999

[Hereditary progressive dystonia with marked diurnal fluctuation; dominant Dopa-responsive dystonia linked to GTP cyclohydrolase I gene (HPD/DRD); Segawa's disease].

Segawa M

Ryoikibetsu Shokogun Shirizu, 1999

[Molecular biology of hereditary dystonia].

Nagatsu T et al.

No to Hattatsu = Brain and Development, 1998

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

Ichinose H et al.

Neuroscience Letters, 1995

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