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[Clinical characteristics and variant analysis of five pedigrees with hereditary spastic paraplegia].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jul 2020

Xie Yanchuan, Xia Yanjie, Sun Zongli, Gu Lei, Bai Zhouxian, Kong Xiangdong

Abstract excerpt

OBJECTIVE: To explore the clinical and genetic characteristics of five pedigrees affected with hereditary spastic paraplegia(HSP). METHODS: Clinical data of the five pedigrees was collected, and high-throughput sequencing was carried out to detect potential variants. Sanger sequencing were used to verify the results. RESULTS: The probands of pedigree 1 and 2 were found to harbor heterozygous SPAST gene variants,...

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PMID: 32619247
DOI: 10.3760/cma.j.issn.1003-9406.2020.07.002

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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