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[Detection and prenatal diagnosis of TOR1A gene mutation in a Chinese family affected with dystonia].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Dec 2017

Chen Chen, Zhu Chaofeng, Zhao Zhenhua, Ren Yilin, Kong Xiangdong

Abstract excerpt

OBJECTIVE: To explore the feasibility of using PCR-based capillary electrophoresis method to analysis mutation of the TOR1A gene in a family affected with primary torsion dystonia (PTD). METHODS: Peripheral blood sample was collected from proband and amnionic fluid from her fetus for the extraction of DNA. The 5th exon of the TOR1A gene and its flanking sequences were amplified with PCR and analyzed with agarose...

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PMID: 29188619
DOI: 10.3760/cma.j.issn.1003-9406.2017.06.019

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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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