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Updated: Jul 18, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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案例报告:一个患有NFKB1哈普隆缺陷的孩子解释了免疫缺陷和矮身之间的联系

S Ricci1,2, S Abu-Rumeileh1, N Campagna1

  • 1Department of Health Sciences, University of Florence, Florence, Italy.

Frontiers in immunology
|August 21, 2023
PubMed
概括

这项研究详细介绍了一名患有常见变性免疫缺陷 (CVID) 和矮身的患者,与一种新的NFKB1基因突变有关. 这一发现表明CVID和生长障碍之间存在潜在的遗传联系.

关键词:
NFKB1 是一个国家.常见的可变免疫缺陷常见的免疫缺陷.增长激素增长激素的使用方法矮身高 矮身高的人整体外基因组测序的测序

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