Four novel mutations in the GCH1 gene of Chinese patients with dopa-responsive dystonia
Author:
Publisher
Wiley
Subject
Clinical Neurology,Neurology
Reference36 articles.
1. Hereditary progressive dystonia with marked diurnal fluctuation;Segawa;Adv Neurol,1976
2. Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease);Segawa;Ann Neurol,2003
3. Linkage mapping of dopa-responsive dystonia (DRD) to chromosome 14q;Nygaard;Nat Genet,1993
4. Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene;Ichinose;Nat Genet,1994
5. Heterozygous mutation in 5′-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia;Steinberger;Neurogenetics,2004
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