Browsing Centre for Immunobiology by Author "Laffan, MA"
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Identification of a homozygous recessive variant in PTGS1 resulting in a congenital aspirin-like defect in platelet function.
Chan, MV; Hayman, MA; Sivapalaratnam, S; Crescente, M; Allan, HE; Edin, ML; Zeldin, DC; Milne, GL; Stephens, J; Greene, D (2020-04-16)We have identified a rare missense variant on chromosome 9, position 125145990 (GRCh37), in exon 8 in PTGS1 (the gene encoding cyclo-oxygenase 1, COX-1, the target of anti-thrombotic aspirin therapy). We report that in the ...