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Updated: Jun 23, 2025

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在CSF1R相关的白细胞大脑病变中发现和描述一种新型的内基拼接突变

Yilai Han1, Jinming Han1, Zhen Li1

  • 1Department of Neurology, Xuanwu Hospital Capital Medical University, National Center for Neurological Disorders, Beijing, China.

CNS neuroscience & therapeutics
|June 26, 2024
PubMed
概括

一种新型的殖民地刺激因子1受体 (CSF1R) 基因突变导致表细胞跳转,导致与CSF1R相关的白血脑病的截断蛋白质. 这突显了在这种神经退行性疾病中拼接缺陷的作用.

关键词:
与CSF1R相关的白细胞大脑病变.通过RNA拼接进行RNA拼接.突出跳过的突出跳过内基突变是一种内基突变.

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Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
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