Identification of a homozygous recessive variant in <i>PTGS1</i> 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 associ...

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Hlavní autoři:	Melissa V. Chan, Melissa A. Hayman, Suthesh Sivapalaratnam, Marilena Crescente, Harriet E. Allan, Matthew L. Edin, Darryl C. Zeldin, Ginger L. Milne, Jonathan Stephens, Daniel Greene, Moghees Hanif, Valerie B. O'Donnell, Liang Dong, Michael G. Malkowski, Claire Lentaigne, Katherine Wedderburn, Matthew Stubbs, Kate Downes, Willem H. Ouwehand, Ernest Turro, NIHR BioResource, Daniel P. Hart, Kathleen Freson, Michael A. Laffan, Timothy D. Warner
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Ferrata Storti Foundation 2020-04-01
Edice:	Haematologica
On-line přístup:	https://haematologica.org/article/view/9716
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