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基于DNA的高产1型神经纤维素瘤诊断揭示了1,917名韩国人的人口特异性突变格局

Jaeryuk Kim1, Gu-Hwan Kim2, Soojin Hwang3

  • 1Department of Laboratory Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.

The Journal of molecular diagnostics : JMD
|February 19, 2026
PubMed
概括

对神经纤维素瘤类型1 (NF1) 的仅DNA诊断策略在韩国个体中实现了81.6%的诊断收益率. 这种具有成本效益的方法确定了独特的NF1变异谱,为基于RNA的方法提供了切实可行的替代方案.

关键词:
测序DNA的 DNA 测序.韩国特有的突变.在MLPA中,我们可以使用MLPA.马赛主义 (Mosaicism) 是一个教派.NF1 NF1 是一个字母.1型神经纤维素瘤病的一种类型.

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