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Updated: Jun 21, 2025

Engineering Oncogenic Heterozygous Gain-of-Function Mutations in Human Hematopoietic Stem and Progenitor Cells
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遗传球球细胞瘤中的复杂异构基因突变:一个案例报告

Miao He1, Yan-Cheng Lv2, Yu-Hong Wei2

  • 1Department of Pediatrics, The Affiliated Hospital of Southwest Medical University, Luzhou 646000, Sichuan Province, China.

World journal of clinical cases
|July 10, 2024
PubMed
概括

这项研究在患有遗传球细胞瘤 (HS) 的儿童中确定了ANK1和SPTA1基因中的一个新的复杂异构细胞突变. 这一发现促进了对HS病变的理解,并指导了用于诊断和治疗的基因测试.

关键词:
在 ANK1 中,ANK1 是 ANK1 的代名词.案例报告案例报告复杂的异合体突变.基因检测技术是基因检测技术.遗传性球球细胞分裂.在SPTA1中,SPTA1是SPTA1的前身.

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