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Article

[A novel mutation of SPAST gene in a hereditary spastic paraplegia type 4 family].

Zhonghua nei ke za zhi - 1 Dec 2022

Zhang L P, Wang Y F

Abstract excerpt

Objective: To clarify the pathogenicity and further explore the association between genotype and clinical phenotype of this variant, analyzing a novel variation of SPAST gene in hereditary spastic paraplegia (HSP) family from Changzhi city, Shanxi Province. Methods: A family with HSP was tracked and collected in Neurology Department of Heping Hospital Affiliated to Changzhi Medical College in October 2019....

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Source

Identifiers

PMID: 36456515
DOI: 10.3760/cma.j.cn112138-20220912-00675

Provenance

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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