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Updated: Jul 6, 2025

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同一个位置上不同异构核酸变化的类效应有助于血友病B表型变异

Huayang Zhang1, Min Xin1, Liya Lin1

  • 1Department of Laboratory Medicine, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China; State Key Laboratory of Medical Genomics, Shanghai Institute of Hematology, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.

Journal of thrombosis and haemostasis : JTH
|January 6, 2024
PubMed
概括

在F9基因的遗传变异导致血友病B (HB). 鉴定这些外来变异的特征揭示了类效应,使得针对HB的向RNA疗法的开发成为可能.

关键词:
这就是U1snRNA.这就是U7snRNA.外型核酸变体的外型核酸变体血友病 B 型 血友病 B 型在mRNA拼接过程中.现型变异的表型变化

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