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

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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Bibliographic Details
Main Authors: Ioanna A Armata, Leonora Balaj, John K Kuster, Xuan Zhang, Shelun Tsai, Andreas A Armatas, Trisha J Multhaupt-Buell, Roy Soberman, Xandra O Breakefield, Hiroshi Ichinose, Nutan Sharma
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2013-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3790877?pdf=render

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http://europepmc.org/articles/PMC3790877?pdf=render

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