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Updated: Jun 3, 2025

In Vivo Modeling of the Morbid Human Genome using Danio rerio
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Published on: August 24, 2013

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32名JAGN1缺乏患者的扩展临床表型和治疗方式:ESID和EBMT IEWP的多中心研究

Julia Fekadu-Siebald1, Emilia Salzmann-Manrique1, Jan Robert Heusel1

  • 1Division for Stem Cell Transplantation and Immunology, Department of Pediatrics, Goethe University, Frankfurt am Main, Germany.

Blood advances
|January 8, 2025
PubMed
概括

贾格纳尔-同类1 (JAGN1) 缺乏导致先天性中性缺血和感染. 32名患者的表型-基因型分析和治疗评估显示,JAGN1变异会影响中性粒细胞发育和相关的综合征特征.

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