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Updated: Jul 17, 2025

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埃文斯综合征是由影响适应蛋白SASH3的有害突变引起的

Wolfgang Novak1,2, Jakob Berner1,2,3,4,5, Michael Svaton3,6

  • 1St. Anna Children's Hospital, Vienna, Austria.

British journal of haematology
|August 30, 2023
PubMed
概括

免疫系统的先天性错误可能导致埃文斯综合征. 在患有自身免疫性细胞衰竭的患者中发现了一种新的SASH3突变,揭示了免疫失调和生殖中心缺失.

关键词:
埃文斯综合征是什么意思 埃文斯综合征这是SASH3缺乏症.自身免疫性细胞衰竭免疫的先天错误 免疫的先天错误整体外基因组测序的测序

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