A novel missense mutation in GCH1 gene in a Korean family with Segawa disease
Author:
Publisher
Elsevier BV
Subject
Clinical Neurology,Developmental Neuroscience,General Medicine,Pediatrics, Perinatology, and Child Health
Reference12 articles.
1. Hereditary progressive dystonia with marked diurnal fluctuation;Segawa;Adv Neurol,1976
2. Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene;Ichinose;Nat Genet,1994
3. High mutation rate in dopa-responsive dystonia: detection with comprehensive GCHI screening;Hagenah;Neurology,2005
4. Blau N, Thony B. BIOMDBdb. http://www.biopku.org/biomdb/search-results.asp.
5. Multiple sequence alignment with the Clustal series of programs;Chenna;Nucleic Acids Res,2003
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