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Updated: Jun 13, 2025

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通过光学基因组映射显示的组织特异性TCF4三重重复不稳定性

Christina Zarouchlioti1, Stephanie Efthymiou2, Stefano Facchini2

  • 1UCL Institute of Ophthalmology, London, UK.

EBioMedicine
|September 15, 2024
PubMed
概括

福克斯内皮角膜缩症 (FECD) 与TCF4重复扩张有关. 光学基因组映射揭示了CTG18.1在患病的角膜细胞中的极端不稳定性,为FECD和类似的重复介导疾病提供了新的治疗点.

关键词:
福克斯内皮角膜缩症 福克斯内皮角膜缩症通过光学基因组映射进行了基因组映射.身体的马赛克主义.组织特定的重复不稳定性.三核酸重复扩张疾病三重重复的扩张介导疾病.

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