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Updated: Jul 1, 2025

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使用小鼠模型测试SIPA1L2作为CMT1A的修饰剂.

George C Murray1,2, Timothy J Hines1, Abigail L D Tadenev1

  • 1The Jackson Laboratory, Bar Harbor, Maine, USA.

Journal of neuropathology and experimental neurology
|March 13, 2024
PubMed
概括

信号诱导扩散相关的1像2 (SIPA1L2) 变体可能会改变夏科特-玛丽-图斯病1A型 (CMT1A). 在小鼠中删除Sipa1l2部分改善了CMT1A神经病变,表明轻微的遗传相互作用.

关键词:
在CMT1A中,CMT1A是CMT1A.查洛特-玛丽-牙病是一种疾病.通过GWAS验证.基因修饰剂是一种基因修饰剂.鼠标模型 鼠标模型在PMP2222中使用.

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