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 prostaglandin endoperoxide synthase 1 (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 cons...

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Detalles Bibliográficos
Autores principales: Chan, Melissa V., Hayman, Melissa A., Sivapalaratnam, Suthesh, Crescente, Marilena, Allan, Harriet E., Edin, Matthew L., Zeldin, Darryl C., Milne, Ginger L., Stephens, Jonathan, Greene, Daniel, Hanif, Moghees, O’Donnell, Valerie B., Dong, Liang, Malkowski, Michael G., Lentaigne, Claire, Wedderburn, Katherine, Stubbs, Matthew, Downes, Kate, Ouwehand, Willem H., Turro, Ernest, Hart, Daniel P., Freson, Kathleen, Laffan, Michael A., Warner, Timothy D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Fondazione Ferrata Storti 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8094108/
https://www.ncbi.nlm.nih.gov/pubmed/32299908
http://dx.doi.org/10.3324/haematol.2019.235895

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