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article_metadata: 10.5334/tohm.974
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article_metadata: 2025 Jan 7:15:1.
article_metadata: 5’-untranslated region dopa-responsive dystonia gch1 gene phathogenic variant phenotype-genotype correlation
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/39801809/
article_metadata: 5' Untranslated Regions / genetics Dystonic Disorders / drug therapy Dystonic Disorders / genetics GTP Cyclohydrolase / genetics Pedigree
article_metadata: 5' Untranslated Regions / genetics Dystonic Disorders / drug therapy Dystonic Disorders / genetics GTP Cyclohydrolase / genetics Pedigree Case Reports Adult Asian People / genetics China East Asian People Female Humans Levodopa / therapeutic use Male Middle Aged Mutation GTP Cyclohydrolase GCH1 protein, human 5' Untranslated Regions Levodopa Dystonia, Dopa-responsive
article_metadata: PMC11720937
article_metadata: 39801809
article_metadata: Pathogenic Variant in the 5'-Untranslated Region of GCH1 and Clinical Heterogeneity in a Chinese Family with Dopa-Responsive Dystonia
article_metadata: 2025