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Updated: Jun 17, 2026

Detection of a CDH1 Rare Transcript Variant in Fresh-frozen Gastric Cancer Tissues by Chip-based Digital PCR
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在疑似CADASIL患者中检测新型变异:单中心研究

Zeynep Selcan Şanli1, Özlem Anlaş2

  • 1Department of Neurology, Adana City Training and Research Hospital, University of Health Sciences, Adana, Turkey.

Molecular syndromology
|April 8, 2024
PubMed
概括

研究人员在三名患有带有皮下心脏病发作和白细胞脑膜病变 (CADASIL) 的大脑自体主导动脉病变的患者中发现了一种新的NOTCH3基因变异. 这一发现扩大了这种家族性小血管疾病的已知遗传原因.

关键词:
大脑自体主导动脉病变与皮层下心脏病发作和白细胞脑病变.在Exon中使用Exon.在NOTCH3中,这是下一代测序.小说变体的小说变体

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