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Updated: Jan 10, 2026

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澳大利亚CADASIL队列中NOTCH3变异的频谱

Solomon K Guyler1, Jasmine Tsai1, Neven Maksemous1,2

  • 1Genomics Research Centre, Centre for Genomics and Personalised Health, School of Biomedical Sciences, Queensland University of Technology (QUT), Brisbane, QLD 4001, Australia.

Genes
|November 27, 2025
PubMed
概括

脑内自体主导动脉病变与皮下心脏病发作和白脑病变 (CADASIL) 的遗传查在12.1%的患者中发现了NOTCH3变异. 一个复合异位病例表明CADASIL症状的早期发作,强调需要探索其他遗传因素.

关键词:
卡达西尔 (CADASIL) 是一种复合物异构的突变是复合物异构的突变.穿透 穿透 穿透 穿透严重的表型严重的表型.

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