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[Spastin gene mutation in Chinese patients with hereditary spastic paraplegia].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Jun 2003

Zhao Guo-hua, Tang Bei-sha, Luo Wei, Xia Kun, Zhuang Mao-you, Kong Fan-bin, Yan Xin-xiang, Deng Han-xiang, Xiao Jian-feng, Xia Jia-hui

Abstract excerpt

OBJECTIVE: To investigate the mutation characteristics of spastin gene in Chinese patients with hereditary spastic paraplegia (HSP) and thus provide a basis for the gene diagnosis of HSP. METHODS: Mutation of spastin gene was screened by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) combined with DNA direct sequencing in 31 unrelated affected HSP individuals in China, of whom 22...

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PMID: 12778437

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

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