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Updated: Jun 4, 2025

Engineering Oncogenic Heterozygous Gain-of-Function Mutations in Human Hematopoietic Stem and Progenitor Cells
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Published on: March 10, 2023

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在Cis中的EGLN1突变可以通过增加蛋白质不稳定性来诱导带有血栓的先天性红细胞瘤

Serge Carillo1,2,3, Marine Delamare4,5, Laurent Henry2,3

  • 1Laboratoire de Cytologie Clinique et Cytogénétique, LBMR néoplasies myéloprolifératives, CHU CAREMEAU, Nîmes, France.

British journal of haematology
|January 2, 2025
PubMed
概括

一个家族中的两个PHD2基因突变通过激活缺氧通路导致遗传性先天性红细胞瘤. E255D突变显著影响PHD2稳定性和疾病严重程度.

关键词:
在 EGLN1 找 EGLN1ECYT3 ECYT3 在线阅读这是一个PHD2PHD2PHD2遗传性红细胞瘤是先天性红细胞瘤.分子诊断 分子诊断 分子诊断

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