[A novel point mutation in the transmembrane domain of platelet glycoprotein IX gene identified in a Bernard-Soulier syndrome patient].

OBJECTIVE To diagnose a patient with Bernard-Soulier syndrome (BSS) and investigate her gene abnormality. METHODS Platelet size and structure were studied under light and electron microscopies. Platelet membrane glycoproteins (GP) were measured by flow cytometry. PCR and DNA sequencing were used to identify gene abnormality. RESULTS The patient had… CONTINUE READING