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[The mitochondrial DNA mutation in spinocerebellar ataxia type 3].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Dec 2008

Wang Jin, Luo Man, Yuan Zhigang, Yang Xiao, Li Guibing

Abstract excerpt

OBJECTIVE: To study the possible relationship between the mitochondrial DNA (mtDNA) mutation and spinocerebellar ataxia type 3 (SCA3). METHODS: Genetic diagnosis of SCA3 was made by detecting the CAG-repeat expansion of MJD1 gene using PCR and DNA sequencing techniques. Then polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) was performed to analyze the mitochondrial DNA extracted from...

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PMID: 19065528

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

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