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Updated: Jan 16, 2026

A Reporter Based Cellular Assay for Monitoring Splicing Efficiency
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在XPA中的一个拼接变体导致Xeroderma Pigmentosum临床特征的延迟发病

Anita van den Heuvel1, Annelotte P Wondergem1, Mihyun Kim2

  • 1Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.

The Journal of investigative dermatology
|September 26, 2025
PubMed
概括

这项研究在塞浦路斯患者中鉴定了一种轻度的Xeroderma pigmentosumA型 (XP-A) 现型,原因是特定的XPA基因拼接缺陷. 这种缺陷导致XPA蛋白水平降低,解释了它们的轻微症状和残留DNA修复能力.

关键词:
修复DNA的修复DNA的修复核酸切除修复 核酸切除修复拼接 拼接 拼接 拼接XPA XPAXPA XPA XPA XPA XPA XPA XPA XPA XPA XPA XPA XPA X黑色皮肤菌 (Xeroderma pigmentosum) 是一种有色素的植物.

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