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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,...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , , , , , , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Public Library of Science
2013
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| Θέματα: | |
| Διαθέσιμο Online: | 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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