Identification of a homozygous recessive variant in PTGS1 resulting in a congenital aspirin-like defect in platelet function

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 homozygous state within a large consanguineous family this variant is associa...

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Veröffentlicht in:	Haematologica (Roma) Jg. 106; H. 5; S. 1423 - 1432
Hauptverfasser:	Chan, Melissa V., Hayman, Melissa A., Suthesh Sivapalaratnam, Marilena Crescente, Allan, Harriet E., Edin, Matthew L., Zeldin, Darryl C., Milne, Ginger L., Jonathan Stephens, Daniel Greene, Moghees Hanif, O'Donnell, Valerie B., Liang Dong, Malkowski, Michael G., Claire Lentaigne, Katherine Wedderburn, Matthew Stubbs, Kate Downes, Ouwehand, Willem H., Ernest Turro, NIHR BioResource, Hart, Daniel P., Kathleen Freson, Laffan, Michael A., Warner, Timothy D.
Format:	Journal Article
Sprache:	Englisch
Veröffentlicht:	Italy Fondazione Ferrata Storti 01.05.2021 Ferrata Storti Foundation
Schlagworte:	Aspirin Blood Platelets Cyclooxygenase 1 - genetics Female Humans Platelet Aggregation - genetics Platelet Function Tests Thromboxane A2
ISSN:	0390-6078, 1592-8721, 1592-8721
Online-Zugang:	Volltext
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