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Updated: Jul 26, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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在儿科类类风湿性疾病中IFIH1和DDX58基因变异

Rinat Raupov1, Evgeny Suspitsin2, Konstantin Belozerov1

  • 1Department of Pediatry, Saint-Petersburg State Pediatric Medical University, Saint-Petersburg 194100, Russia.

World journal of clinical pediatrics
|June 21, 2023
PubMed
概括

罕见的DDX58和IFIH1基因变异与儿科类风湿性疾病有关,经常导致干扰素I信号通路过活. 这些发现表明这些基因在自身免疫性疾病中的作用.

关键词:
在DDX58DDX58中使用.IFIH1 的意思是干扰素I分数的得分系统性红血性狼 (Systemic lupus erythematosusus) 是一种全身性狼.不分化的全身性自身炎症性疾病.

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