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Meta-analysis of age at onset in spastin-associated hereditary spastic paraplegia provides no evidence for a correlation with mutational class.

作者信息

Yip A G, Dürr A, Marchuk D A, Ashley-Koch A, Hentati A, Rubinsztein D C, Reid E

机构信息

Genetics Program, Department of Medicine, Boston University School of Medicine, Boston, MA 02118, USA.

出版信息

J Med Genet. 2003 Sep;40(9):e106. doi: 10.1136/jmg.40.9.e106.

DOI:10.1136/jmg.40.9.e106
PMID:12960222
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1735583/
Abstract
摘要

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Meta-analysis of age at onset in spastin-associated hereditary spastic paraplegia provides no evidence for a correlation with mutational class.痉挛素相关遗传性痉挛性截瘫发病年龄的荟萃分析未发现与突变类型存在相关性的证据。
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First mutation in the nuclear localization signal sequence of spastin protein identified in a patient with hereditary spastic paraplegia.在一名遗传性痉挛性截瘫患者中首次鉴定出痉挛蛋白核定位信号序列中的突变。
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BMC Neurol. 2010 Mar 9;10:17. doi: 10.1186/1471-2377-10-17.
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