Identification of potential pathogenic genes for severe aplastic anemia by whole-exome sequencing.
Yang ZhangYu ZhangHongyu GeNianbin LiChunyan LiuTing WangRong FuZonghong ShaoPublished in: Journal of clinical laboratory analysis (2022)
The mutations of PRSS1, KCNJ18, PRSS2, and DGKK, especially PRSS1 in CD8+T cells, may be involved in the immune pathogenesis of SAA.