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Updated: Jul 19, 2025

Detection of Alternative Splicing During Epithelial-Mesenchymal Transition
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异质拼接模式由KIF5A变异产生的,与肌缩性侧面硬化症相关

Megan G Pino1,2,3, Kelly A Rich1, Nicholas J Hall1,2

  • 1Department of Neurology, The Ohio State University Wexner Medical Center, Columbus, OH 43210, United States.

Human molecular genetics
|August 18, 2023
PubMed
概括

在KIF5A中单核酸变体通过损害运动神经元蛋白质水平,导致轴突运输缺陷,导致肌缩性侧面硬化症 (ALS). 这项研究阐明了这些KIF5A变异在ALS病变发生过程中的拼接效应.

关键词:
这就是ALS.KIF5A KIF5A KIF5A KIF5A KIF5A KIF5A KIF5A KIF5A KIF5A KIF5A KIF5A KIF5A KIF5A KIF5A通过RNA拼接进行RNA拼接.基因表达的基因表达方式运动神经元疾病 运动神经元疾病

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