Article
A novel mutation in the GP1BA gene in Bernard-Soulier syndrome.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Jan 2020
Özdemir Zeynep C, Düzenli Kar Yeter, Ceylaner Serdar, Bör Özcan
Abstract excerpt
: The Bernard-Soulier syndrome (BSS) is a rare disease with a prevalence of 1/1000 000; it is characterized by macrothrombocytopenia. BSS develops as a result of a defect in the glycoprotein GPIb-IX-V complex on the platelet surface. In this article, we present a pediatric patient with the novel mutation that has been identified for the first time in BSS. A 13-month-old male patient was admitted with severe...
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