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[Clinical phenotype and genetic characteristics of a Chinese pedigree affected with Spastic paraplegia type 5A].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Apr 2024

Liu Mengyuan, Li Dongxiao, Li Yuke, Mei Daoqi, Dong Shijie, Wang Yanli, Hu Weiyu, Gao Chao

Abstract excerpt

OBJECTIVE: To explore the clinical phenotype and genetic characteristics of a Chinese pedigree affected with Spastic paraplegia type 5A (SPG5A). METHODS: A pedigree suspected for Hereditary spastic paraplegia (HSP) at Henan Children's Hospital on August 15 2022 was selected as the study subject. Clinical data of the pedigree was collected. Peripheral blood samples were collected from members of the pedigree....

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PMID: 38565509
DOI: 10.3760/cma.j.cn511374-20230116-00028

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