Dopa-Responsive Dystonia in Han Chinese Patients: One Novel Heterozygous Mutation in GTP Cyclohydrolase 1 (GCH1) and Three Known Mutations in TH

BACKGROUND: This study aimed to clarify the diagnosis and expand the understanding of dopa-responsive dystonia (DRD). MATERIAL/METHODS: Relevant data from clinical diagnoses and genetic mutational analyses in 3 Han Chinese patients with sporadic DRD were collected and analyzed. Protein structure/fun...

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Detalles Bibliográficos
Autores principales: Yang, Kunfang, Yin, Rongrong, Lan, Xiaoping, Zhang, Yuanfeng, Cheng, Hongyi, Wang, Simei, Wang, Chunmei, Lu, Yanfen, Xi, Jiaming, Lu, Qin, Huang, Jianjun, Chen, Yucai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: International Scientific Literature, Inc. 2018
Materias:
Clinical Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5810615/
https://www.ncbi.nlm.nih.gov/pubmed/29405179
http://dx.doi.org/10.12659/MSM.907288

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5810615/
https://www.ncbi.nlm.nih.gov/pubmed/29405179
http://dx.doi.org/10.12659/MSM.907288

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