Novel PIK3CD mutations affecting N-terminal residues of p110δ cause activated PI3Kδ syndrome (APDS) in humans.
The Journal Of Allergy And Clinical Immunology
Takeda, Andrew J AJ; Zhang, Yu Y; Dornan, Gillian L GL; Siempelkamp, Braden D BD; Jenkins, Meredith L ML; Matthews, Helen F HF; McElwee, Joshua J JJ; Bi, Weimin W; Seeborg, Filiz O FO; Su, Helen C HC; Burke, John E JE; Lucas, Carrie L CL