A novel genetic variant in PTGS1 affects N-glycosylation of cyclooxygenase-1 causing a dominant-negative effect on platelet function and bleeding diathesis.

Verónica Palma-BarquerosMarilena CrescenteMaría Eugenia de la MorenaMelissa V ChanElena AlmarzaNuria RevillaNatalia BohdanAntonia MiñanoJosé PadillaHarriet E AllanTania MaffucciMatthew L EdinDarryl C ZeldinCristina Mesa-NuñezCarlos DamianAna Marín-QuilezRocío BenitoIrene Martínez-MartínezNuria BermejoIgnacio Casas-AvilesAgustín Rodríguez-AlenJosé R González-PorrasJesús María Hernández-RivasVicente VicenteJavier CorralMaría Luisa LozanoTimothy D WarnerJosé María BastidaJosé Rivera

Published in: American journal of hematology (2021)

Keyphrases

atrial fibrillation
genome wide
copy number
nitric oxide synthase
gene expression