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Updated: Jul 5, 2025

Engineering Oncogenic Heterozygous Gain-of-Function Mutations in Human Hematopoietic Stem and Progenitor Cells
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一个生殖系JAK2的exon12突变和一个晚期的体质CALR突变在一个患有基本血栓细胞血症的病人

Zhuanghui Hao1, Juan Li2, Feng Gao3

  • 1Institute of Hematology, The Second Hospital of Shanxi Medical University, Taiyuan, China.

Frontiers in oncology
|January 19, 2024
PubMed
概括

这项研究报告了一种罕见的基本血小板血 (ET) 病例,同时存在Janus激酶2 (JAK2) 异位素12和calreticulin (CALR) 突变. JAK2N533S突变似乎是一种对细胞功能的影响最小的生殖系突变,这表明非正规的JAK2突变可能不会驱动骨髓增殖性瘤.

关键词:
这是一种CALR类型1突变.JAK2 异构12 突变发生在 JAK2 上.一个独特的现象型.基本的血栓细胞血症.骨髓扩散性瘤是什么

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