Article
Bleeding tendency and impaired platelet function in a patient carrying a heterozygous mutation in the thromboxane A2 receptor.
Journal of thrombosis and haemostasis : JTH - 1 May 2011
Kamae T, Kiyomizu K, Nakazawa T, Tadokoro S, Kashiwagi H, Honda S, Kanakura Y, Tomiyama Y
Abstract excerpt
BACKGROUND: Thromboxane A(2) receptor (TXA(2)R) abnormality appears to dominantly disturb platelet function. OBJECTIVES: To reveal a molecular genetic defect in a patient with TXA(2)R abnormality and investigate the mechanism for the impaired response to TXA(2). PATIENT: The proband (OSP-2, PT) was a 7-year-old Japanese girl, suffering from repeated mucocutaneous bleeding. METHODS AND RESULTS: U46619 (2.5 and 10...
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