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Updated: Jun 23, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Published on: August 15, 2019

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慢性颗粒状瘤疾病中的基因型-表型相关性:来自大型国家队列的见解

Baruch Wolach1,2,3, Ronit Gavrieli1,2,3, Ofir Wolach3,4

  • 1Division of Pediatrics, Pediatric Hematology Clinic, Kfar Saba, Israel.

Blood
|June 21, 2024
PubMed
概括

慢性颗粒状体疾病 (CGD) 是一种免疫缺陷,其中中性粒细胞无法产生活性氧物种 (ROS),导致反复感染. 这项研究强调了以色列CGD的诊断和治疗,并指出了自体逆向亚型的占主导地位,以及血造干细胞移植的成功结果.

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