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Article

Dominant negative effect of GTP cyclohydrolase I mutations in dopa-responsive hereditary progressive dystonia.

Annals of neurology - 1 Sept 1998

Hirano M, Yanagihara T, Ueno S

Abstract excerpt

Hereditary progressive dystonia (HPD) is caused by the mutant gene encoding GTP cyclohydrolase I (GCH). The clinical presentation of this disease varies considerably, and many cases appear to be sporadic. We have previously proposed that this clinical variation may be due to differential expression of the mutant and normal GCH mRNA, presumably at the protein level. To provide support for this proposal, we studied...

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PMID: 9749603
DOI: 10.1002/ana.410440312

Genes

HPD

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Dominant negative effect of GTP cyclohydrolase I mutations in dopa-responsive hereditary progressive dystonia.PMID 9749603Read ↗

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Exon skipping caused by a base substitution at a splice site in the GTP cyclohydrolase I gene in a Japanese family with hereditary progressive dystonia dopa responsive dystonia.Semantic proximity Read ↗

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