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Article

A novel de novo point mutation in the GTP cyclohydrolase I gene in a Japanese patient with hereditary progressive and dopa responsive dystonia.

Journal of neurology, neurosurgery, and psychiatry - 1 Dec 1998

Sasaki R, Naito Y, Kuzuhara S

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Identifiers

PMID: 9854983
DOI: 10.1136/jnnp.65.6.947
PMCID: PMC2170395

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A novel de novo point mutation in the GTP cyclohydrolase I gene in a Japanese patient with hereditary progressive and dopa responsive dystonia.PMID 9854983Read ↗

A case of parkinsonism and dopa-induced severe dyskinesia associated with novel mutation in the GTP cyclohydrolase I gene.Semantic proximity Read ↗

Dopa-responsive dystonia in British patients: new mutations of the GTP-cyclohydrolase I gene and evidence for genetic heterogeneity.Semantic proximity Read ↗

A novel mutation in GCH-1 gene in a case of dopa-responsive dystonia.Semantic proximity Read ↗

Gene symbol: GTP cyclohydrolase I (GCH-I). Disease: dopa-responsive dystonia.Semantic proximity Read ↗

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A novel missense mutant inactivates GTP cyclohydrolase I in dopa-responsive dystonia.Semantic proximity Read ↗

Dopa-Responsive Dystonia in Han Chinese Patients: One Novel Heterozygous Mutation in GTP Cyclohydrolase 1 (GCH1) and Three Known Mutations in TH.Semantic proximity Read ↗

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Four novel mutations in the GCH1 gene of Chinese patients with dopa-responsive dystonia.Semantic proximity Read ↗

Autosomal-dominant guanosine triphosphate cyclohydrolase I deficiency with novel mutations.Semantic proximity Read ↗

[Autosomal-dominant DOPA-responsive dystonia, caused by mutations in the GTP-cyclohydrolase I gene].Semantic proximity Read ↗

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