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Article

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

Medical science monitor : international medical journal of experimental and clinical research - 6 Feb 2018

Yang Kunfang, Yin Rongrong, Lan Xiaoping, Zhang Yuanfeng, Cheng Hongyi, Wang Simei, Wang Chunmei, Lu Yanfen, Xi Jiaming, Lu Qin, Huang Jianjun, Chen Yucai

Abstract excerpt

BACKGROUND This study aimed to clarify the diagnosis and expand the understanding of dopa-responsive dystonia (DRD). MATERIAL AND METHODS Relevant data from clinical diagnoses and genetic mutational analyses in 3 Han Chinese patients with sporadic DRD were collected and analyzed. Protein structure/function was predicted. RESULTS One novel mutation of c.679A>G (p.T227A) in GCH1 and 3 known mutations of c.457C>T...

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Identifiers

PMID: 29405179
DOI: 10.12659/msm.907288
PMCID: PMC5810615

Genes

GCH1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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