STAT3

Miao Pan1,2,3, Justin Kurtz1,2,3

  • 1Division of Pathology and Laboratory Medicine, Children's National Hospital, George Washington University, Washington, DC, United States.

Frontiers in medicine
|November 29, 2023
PubMed
概括

信号传感器和转录3激活器 (STAT3) 中的功能获取变异导致婴儿自身免疫性疾病. 在患有这种罕见多系统性疾病的患者中,发现了一种新的STAT3变异p.Glu616Ala.