A novel variant (p.A524P) in Spastin is responsible for a Chinese family with hereditary spastic paraplegia.

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Title: A novel variant (p.A524P) in Spastin is responsible for a Chinese family with hereditary spastic paraplegia.
Authors: Jin YH; Department of Cell Biology, The School of Life Sciences, Central South University, Changsha, 410013, China., Xiang YZ; Department of Cell Biology, The School of Life Sciences, Central South University, Changsha, 410013, China., Zhao MF; Department of Cell Biology, The School of Life Sciences, Central South University, Changsha, 410013, China., Liu YH; Department of Neurology, Affiliated Hospital of Yangzhou University, Yangzhou, 225001, China., Fan LL; Department of Cell Biology, The School of Life Sciences, Central South University, Changsha, 410013, China. swfanliangliang@csu.edu.cn., Li XC; Department of Neurology, Affiliated Hospital of Yangzhou University, Yangzhou, 225001, China. leeshawnc@outlook.com.
Source: Molecular biology reports [Mol Biol Rep] 2024 Sep 04; Vol. 51 (1), pp. 951. Date of Electronic Publication: 2024 Sep 04.
Publication Type: Journal Article
Journal Info: Publisher: Reidel Country of Publication: Netherlands NLM ID: 0403234 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-4978 (Electronic) Linking ISSN: 03014851 NLM ISO Abbreviation: Mol Biol Rep Subsets: MEDLINE
Database: MEDLINE Ultimate
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ISSN:1573-4978
DOI:10.1007/s11033-024-09880-0