학술논문

Bernard–Soulier syndrome: first human case due to a homozygous deletion of GP9 gene.
Document Type
Article
Source
British Journal of Haematology. Mar2020, Vol. 188 Issue 6, pe87-e90. 4p. 1 Diagram, 1 Graph.
Subject
*DELETION mutation
*VON Willebrand disease
*BLOOD platelet disorders
*BONE marrow cells
*STEM cell factor
*BLOOD platelet aggregation
Language
ISSN
0007-1048
Abstract
Keywords: platelet aggregation; platelet disorders; platelet genetic diseases; platelet membrane; thrombocytopenia Flow cytometry labelling was realized on platelet-rich plasma obtained after centrifugation for the control and after whole-blood sedimentation for the patient because of the platelets' size. Platelets' patient were negative for GpIX (C, right) like immunolabelling of GpIb/IX/V complex of patients' megakaryocytes (D, lower) whereas control platelets (C, left) and megakaryocytes (D, upper) were positive. gl Platelet aggregation, platelet disorders, platelet genetic diseases, platelet membrane, thrombocytopenia. [Extracted from the article]