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Updated: May 11, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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一名患有RFX5变异的患者导致HLA ABC和HLA DR的表达缺陷

Serdar Goktas1, Gamze Sonmez2, Ali Şahin3

  • 1Division Of Pediatric Immunology And Allergy, Faculty of Medicine, Erciyes University, Kayseri, Turkey.

Immunologic research
|April 16, 2025
PubMed
概括

一名患有调节因子X5 (RFX5) 基因突变的患者被诊断出一种罕见的综合免疫缺陷. 这种突变导致了极低的人类白细胞抗原 (HLA) 表达,影响了免疫功能,并需要血造干细胞移植.

关键词:
主要的组织相容性复杂.在 RFX5 基因上.在SXY模块中使用SXY模块.整个外基因组的测序.

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