GTP Cyclohydrolase I and Tyrosine Hydroxylase Gene Mutations in Familial and Sporadic Dopa-Responsive Dystonia Patients

Dopa-responsive dystonia (DRD) is a rare inherited dystonia that responds very well to levodopa treatment. Genetic mutations of GTP cyclohydrolase I (GCH1) or tyrosine hydroxylase (TH) are disease-causing mutations in DRD. To evaluate the genotype-phenotype correlations and diagnostic values of GCH1...

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Autors principals: Cai, Chunyou, Shi, Wentao, Zeng, Zheng, Zhang, Meiyun, Ling, Chao, Chen, Lei, Cai, Chunquan, Zhang, Benshu, Li, Wei-Dong
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2013
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3675154/
https://ncbi.nlm.nih.gov/pubmed/23762320
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0065215
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