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GCH1 gene

Known as: GTP CYCLOHYDROLASE I, GTPCH1, DYT5a 
National Institutes of Health

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GTP CyclohydrolaseGTP Cyclohydrolase I

Papers overview

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2017
2017
Polymorphism in MIR4697 but not VPS13C, GCH1, or SIPA1L2 is associated with risk of Parkinson’s disease in a Han Chinese population
Review
2012
Review
2012
Overview of primary monogenic dystonia.
2010
2010
Different SNP combinations in the GCH1 gene and use of labor analgesia
BackgroundThe aim of this study was to investigate if there is an association between different SNP combinations in the guanosine… 
2009
2009
Segawa syndrome due to mutation Q89X in the GCH1 gene: a possible founder effect in Córdoba (southern Spain)
Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency is an inborn error of neurotransmitter metabolism, with a… 
2007
2007
Adult‐onset dystonia: Atypical manifestation of Segawa disease
A 33‐year‐old woman developed exercise‐induced limb and trunk dystonia with marked diurnal fluctuations. Treatment with levodopa… 
2006
2006
A yeast 2‐hybrid analysis of human GTP cyclohydrolase I protein interactions
The yeast 2‐hybrid system was used to identify protein domains involved in the oligomerization of human guanosine 5′‐triphosphate… 
Review
2002
Review
2002
Mutations of GCH1 in Dopa-responsive dystonia
Summary. Dopa responsive dystonia (DRD) is an autosomal dominant dystonia caused by mutations in the gene GCH1 in about 50% of… 
2000
2000
Propachlor Removal by Pseudomonas Strain GCH1 in an Immobilized-Cell System
ABSTRACT A bacterial strain capable of growing on propachlor (2-chloro-N-isopropylacetanilide) was isolated from soil by using… 
1998
1998
The GTP cyclohydrolase I gene in Russian families with dopa-responsive dystonia.
OBJECTIVE To search for mutations in the GTP cyclohydrolase I (GCH-I) gene in a set of Russian families with dopa-responsive… 
1997
1997
Two previously unrecognized splicing mutations of GCH1 in Dopa-responsive dystonia: exon skipping and one base insertion
ABSTRACTWe describe two previously unrecognized splice site mutations of GCH1 in Dopa responsive dystonia (DRD). Both mutations… 
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