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[Identification of DYT1 mutation in patients with primary torsion dystonia patients in China].

Zhonghua yi xue za zhi - 4 Sept 2007

Yang Jing-fang, Li Jian-yu, Li Yong-jie, Zhang Yan-li, Chen Biao

Abstract excerpt

OBJECTIVE: To evaluate the value of denaturing high-performance liquid chromatography (DHPLC) in detection of mutations in the DYT1 gene in the patients with primary torsion dystonia (PTD) and to explore the distribution of mutation in China. METHODS: Peripheral blood samples were collected from 13 early PTD patients, 8 males and 5 females, aged 20 +/- 6. PCR was used to amplify the exon 5 of the DYT1 gene. The...

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PMID: 18036294

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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