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

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Veröffentlicht in:	American journal of hematology 2021-03, Vol.96 (3), p.E83-E88
Hauptverfasser:	Palma‐Barqueros, Verónica, Crescente, Marilena, Morena, María Eugenia, Chan, Melissa V., Almarza, Elena, Revilla, Nuria, Bohdan, Natalia, Miñano, Antonia, Padilla, José, Allan, Harriet E., Maffucci, Tania, Edin, Matthew L., Zeldin, Darryl C., Mesa‐Nuñez, Cristina, Damian, Carlos, Marín‐Quilez, Ana, Benito, Rocío, Martínez‐Martínez, Irene, Bermejo, Nuria, Casas‐Aviles, Ignacio, Rodríguez‐Alen, Agustín, González‐Porras, José R., Hernández‐Rivas, Jesús María, Vicente, Vicente, Corral, Javier, Lozano, María L., Warner, Timothy D., Bastida, José María, Rivera, José
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Asian People - genetics Cyclooxygenase 1 - deficiency Cyclooxygenase 1 - genetics Cyclooxygenase 1 - metabolism Female Genes, Dominant Genetic diversity Glycosylation HEK293 Cells Hematology Hemorrhagic Disorders - blood Hemorrhagic Disorders - genetics Heterozygote Humans Loss of Function Mutation Mutation, Missense Phenotype Platelet Activation - genetics Platelet Activation - physiology Prostaglandin endoperoxide synthase Protein Processing, Post-Translational - genetics
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