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Updated: Jul 24, 2025

Detection of Alternative Splicing During Epithelial-Mesenchymal Transition
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由TTN相关神经肌肉疾病中的拼接突变引起的异常mRNA处理

Guangyu Wang1, Wenjing Wu1, Xiaoqing Lv1

  • 1Department of Neurology and Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University, Jinan, Shandong, 250012, China.

Journal of human genetics
|July 5, 2023
PubMed
概括

两个新的TTN基因突变导致异常的mRNA拼接,导致罕见的神经肌肉疾病,如先天性肌肉病 (CM). 这扩大了 TTN 相关疾病的已知拼接突变谱.

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