"突变阴性"CAPS患者体内NLRP3马赛克主义:来自英国单一中心队列的见解

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Sonia Melo Gomes1, Juan I Arostegui2, Ana Mensa-Vilaro2

  • 1Department of Rheumatology, Great Ormond Street Hospital, London, United Kingdom.

Frontiers in pediatrics
|June 20, 2025
PubMed
概括

在40%的患有皮林相关周期性综合征 (CAPS) 的儿科患者中,使用基于amplicon的深度测序发现了体内NLRP3马赛克. 这突出了马赛克主义.

关键词:
这些都是CAPS,CAPS.NGS下一代测序系统在NLRP3中,NLRP3是NLRP3中的一个.马赛克主义的马赛克主义.马赛克主义的分布马赛克主义的稳定性

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