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[Analysis of KIF1A gene variant in a Chinese pedigree affected with Spastic paraplegia type 30].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Apr 2023

Xu Gang, Li Jianwei, Deng Zhanjin, Xia Yuan, Wang Tao, Bai Yan, Qi Yan, Zhou Yong An

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a Chinese pedigree affected with hereditary spastic paraplegia type 30 (HSP30). METHODS: A proband presented at the Second Hospital of Shanxi Medical University in August 2021 was selected as the study subject. The proband was subjected to whole exome sequencing, and candidate variant was verified by Sanger sequencing and bioinformatic analysis. RESULTS: The proband was...

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PMID: 36972935
DOI: 10.3760/cma.j.cn511374-20220718-00475

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