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Article

[Identification of SPAST gene variant in a pedigree affected with hereditary spastic paraplegia type 4].

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

Qi Na, Ma Mingming, Yang Ke, Lou Guiyu, Qin Litao, Hou Qiaofang, Zhang Yuwei, Liao Shixiu

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a pedigree affected with hereditary spastic paraplegia type 4 (HSP4). METHODS: Peripheral venous blood samples were taken from members of the four-generation pedigree and 50 healthy controls for the extraction of genomic DNA. Genes associated with peripheral neuropathy and hereditary spastic paraplegia were captured and subjected to targeted capture and next-generation...

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PMID: 33179235
DOI: 10.3760/cma.j.cn511374-20191120-00592

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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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