Skip to main content
. 2023 Jun 22;14:3728. doi: 10.1038/s41467-023-39295-7

Fig. 1. Grey platelet syndrome cohort: mutations characteristics.

Fig. 1

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.