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A novel PCYT2 mutation identified in a Chinese consanguineous family with hereditary spastic paraplegia 被引量:1

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摘要 Hereditary spastic paraplegia(HSP) is a rare neurodegenerative disease due to a length-dependent distal axonopathy of the corticospinal tract(Fink, 2006). HSP has highly clinical heterogeneity and is classified into pure and complex forms according to the description by Harding(1983).
出处 《Journal of Genetics and Genomics》 SCIE CAS CSCD 2021年第8期751-754,共4页 遗传学报(英文版)
基金 supported by the research foundation for distinguished scholar of Zhejiang University to Zhi-Ying Wu (188020-193810101/089, Hangzhou) Fundamental Research Funds for the Central Universities (2019XZZX00101-04)。
关键词 CLINICAL HEREDITARY COR
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