STXBP2-R190C Variant in a Patient With Neonatal Hemophagocytic Lymphohistiocytosis (HLH) and G6PD Deficiency Reveals a Critical Role of STXBP2 Domain 2 on Granule Exocytosis
新生儿噬血细胞性淋巴组织细胞增生症 (HLH) 和 G6PD 缺乏症患者的 STXBP2-R190C 变异揭示了 STXBP2 结构域 2 对颗粒胞吐的关键作用
期刊:Frontiers in Immunology
影响因子:5.7
doi:10.3389/fimmu.2020.545414
Nathalia Benavides, Waldo A Spessott, Maria L Sanmillan, Marcelo Vargas, Mylynda S Livingston, Nissa Erickson, Tamara C Pozos, Margaret E McCormick, Emilia Scharrig, Yoav H Messinger, Claudio G Giraudo
