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Updated: Jan 17, 2026

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
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携带KIAA0586/TALPID3变异的患者的分子治疗选择

Jacqueline E Taudien1, Sebastian Swirski1, Maike Möller1

  • 1Human Genetics, School of Medicine and Health Sciences, Carl von Ossietzky Universität Oldenburg, 26129 Oldenburg, Germany.

Molecular therapy. Nucleic acids
|September 15, 2025
PubMed
概括

基于RNA的疗法和读透剂在治疗由KIAA0586/TALPID3变体引起的乔伯特综合征 (JS) 中表现有前途. 这些分子治疗有效地解决了患者衍生细胞中的细胞缺陷,为JS患者提供了潜在的未来治疗策略.

关键词:
在 ASO/AON 中使用.朱伯特综合征是什么?朱伯特综合征是什么?在KIAA0586/TALPID3中使用.MT:寡核酸:治疗方法和应用.在 PTC124/ataluren 中使用.反感的寡核化物.纤毛病是一种纤毛病.治疗方法是一种治疗方法.治疗疗法治疗疗法治疗疗法翻译阅读通过翻译.

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