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Article

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

Neuroscience letters - 5 Feb 1999

Hirano M, Komure O, Ueno S

Abstract excerpt

Dopa-responsive dystonia (DRD) due to mutant GTP cyclohydrolase I (GCH) shows the considerable heterogeneity of clinical phenotypic expression. To explain the clinical diversity, we studied a Japanese family with a novel mutant GCH (GCH-G90V), where an affected heterozygote had a higher mutant/no...

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Source

Identifiers

PMID: 10076897
DOI: 10.1016/s0304-3940(98)00984-7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-10076897-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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