A novel monoallelic gain of function mutation in p110Î´ causing atypical activated phosphoinositide 3-kinase Î´ syndrome (APDS-1).
Lougaris, Vassilios; Baronio, Manuela; Moratto, Daniele; Tampella, Giacomo; Gazzurelli, Luisa; Facchetti, Mattia; Martire, Baldassarre; Cardinale, Fabio; Lanzarotto, Francesco; Bondioni, Maria Pia; Villanacci, Vincenzo; Grimbacher, Bodo; Plebani, Alessandro.
; 200: 31-34, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30639166
Activating PI3KÎ´ mutations in a cohort of 669 patients with primary immunodeficiency.
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