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A novel variant of SPAST in a pedigree with pure hereditary spastic paraplegia in Yunnan Province

BACKGROUND: Hereditary spastic paraplegia (HSP) is a rare group of genetically heterogeneous, neurodegenerative disorders. The aim of this study was to identify pathological candidate genes and variants in a large pedigree cohort of 11 purely HSP patients in Yunnan Province. METHODS: Whole-exome seq...

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Detalles Bibliográficos
Autores principales:	Shen, Tao, Zhang, Wen, Li, Li, Zuo, Rong-Xia, Wang, Zi-Jun, Xiao, Tai, Zheng, Kun-Wen
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	AME Publishing Company 2022
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8848415/ https://www.ncbi.nlm.nih.gov/pubmed/35282124 http://dx.doi.org/10.21037/atm-21-6698

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