Novel biallelic TRNTI mutations resulting in sideroblastic anemia, combined B and T cell defects, hypogammaglobulinemia, recurrent infections, hypertrophic cardiomyopathy and developmental delay

作者:Lougaris Vassilios*; Chou Janet; Baronio Manuela; Gazzurelli Luisa; Lorenzini Tiziana; Soresina Annarosa; Moratto Daniele; Badolato Raffaele; Seleman Michael; Bellettato Massimo; Geha Raif S; Plebani Alessandro
来源:Clinical Immunology, 2018, 188: 20-22.
DOI:10.1016/j.clim.2017.11.008