Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K
PIK3R1 中的杂合剪接突变导致人类免疫缺陷，并因 PI3K 的显性激活而导致淋巴细胞增生
期刊:Journal of Experimental Medicine
影响因子:12.6
doi:10.1084/jem.20141759
Carrie L Lucas, Yu Zhang, Anthony Venida, Ying Wang, Jason Hughes, Joshua McElwee, Morgan Butrick, Helen Matthews, Susan Price, Matthew Biancalana, Xiaochuan Wang, Michael Richards, Tamara Pozos, Isil Barlan, Ahmet Ozen, V Koneti Rao, Helen C Su, Michael J Lenardo
