Fig. 1: Grey platelet syndrome cohort: mutations characteristics.
From: NBEAL2 deficiency in humans leads to low CTLA-4 expression in activated conventional T cells
a Positions of the NBEAL2 mutations at the protein level. Compound heterozygous mutations are annotated with the same color. Homozygous mutations are annotated in black. b NBEAL2 immunoblotting on activated T cells lysates from patients and healthy controls (Ctrl), performed once for each sample. The protein ku-70 is used as a loading control. Source data are provided as a Source Data file.
