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Article

Dopa-responsive dystonia: functional analysis of single nucleotide substitutions within the 5' untranslated GCH1 region.

PloS one - 1 Jan 2013

Armata Ioanna A, Balaj Leonora, Kuster John K, Zhang Xuan, Tsai Shelun, Armatas Andreas A, Multhaupt-Buell Trisha J, Soberman Roy, Breakefield Xandra O, Ichinose Hiroshi, Sharma Nutan

Abstract excerpt

BACKGROUND: Mutations in the GCH1 gene are associated with childhood onset, dopa-responsive dystonia (DRD). Correct diagnosis of DRD is crucial, given the potential for complete recovery once treated with L-dopa. The majority of DRD associated mutations lie within the coding region of the GCH1 gene, but three additional single nucleotide sequence substitutions have been reported within the 5' untranslated (5'UTR)...

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Identifiers

PMID: 24124602
DOI: 10.1371/journal.pone.0076975
PMCID: PMC3790877

Genes

GCH1

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