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Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

From: Novel SLFN14 mutation associated with macrothrombocytopenia in a patient with severe haemorrhagic syndrome

Fig. 1

SLFN14 mutation and optical microscopy of platelets (×1000 magnification). Panel A shows affected persons (shaded). The # sign marks the patient, and the arrow indicates the change in nucleotides in the chromatogram. Panel B shows a blood smear from a healthy volunteer with normal platelets. Panels C and D show the patient’s platelets heterogeneous in size with large vacuolar inclusions.

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