Dopa-Responsive Dystonia: Functional Analysis of Single Nucleotide Substitutions within the 5’ Untranslated GCH1 Region

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,...

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Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Public Library of Science 2013
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3790877/
https://ncbi.nlm.nih.gov/pubmed/24124602
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0076975
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