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. 2021 Oct 1;10(10):2630. doi: 10.3390/cells10102630

Figure 1.

Figure 1

Upper panel: Platelet granule secretion after stimulation with thrombin (concentrations: 0, 0.05, 0.1, 0.2, 0.5, and 1.0 U/mL) for the two brothers using flow cytometry. Severely impaired δ-granule secretion indicated by reduced platelet CD63 expression in P1 (A) and P2 (B) compared to the healthy control. Data are expressed as logarithmic arbitrary units (logAU) of anti-CD63-stained unstimulated and thrombin-stimulated platelets. Lower panel: Sanger Sequencing for confirmation of BLOC1S5:c.[113-1G > A];[113-1G > A]. Reverse chromatograms for patient P1 (C) and P2 (D).