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

doi:10.1002/ajh.26076

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

American journal of hematology - 1 Mar 2021

Palma-Barqueros Verónica, Crescente Marilena, de la 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

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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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