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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3790877/
https://www.ncbi.nlm.nih.gov/pubmed/24124602
http://dx.doi.org/10.1371/journal.pone.0076975

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