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Updated: Jun 5, 2025

A Reporter Based Cellular Assay for Monitoring Splicing Efficiency
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探索非编码变体,并评估用于阿舍尔综合征中的拼接重定向的反意义寡核酸

Belén García-Bohórquez1,2,3, Pilar Barberán-Martínez1,3, Elena Aller1,2,3,4

  • 1Molecular, Cellular and Genomics Biomedicine, Health Research Institute La Fe, 46026 Valencia, Spain.

Molecular therapy. Nucleic acids
|December 4, 2024
PubMed
概括

在USH2A基因中,深层内部变异对遗传性视网膜变有显著的贡献. 反感性寡核酸 (ASO) 通过纠正这些变体引起的异常拼接,显示出治疗潜力.

关键词:
MT:寡核酸:治疗方法和应用.在USH2A中使用.阿舍尔综合征是什么意思阿舍尔综合征是什么意思反感的寡核化物.在深度-intronic.迷你基因是一种微型基因.非编码地区地区.这是一个假的exonon.拼接 拼接 拼接 拼接

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