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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.

Palma-Barqueros, Verónica, Crescente, Marilena ORCID logoORCID: https://orcid.org/0000-0003-3164-512X, 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 and Rivera, José (2020) 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, 96 (3). E83-E88. ISSN 0361-8609

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Item Type: Article
Peer-reviewed: Yes
Date added to e-space: 01 Jul 2021 10:49
Publisher: Wiley
Divisions: Faculties > Science and Engineering
Research Centres > Centre for Bioscience
Subject terms: Humans, Hemorrhagic Disorders, Protein Processing, Post-Translational, Glycosylation, Platelet Activation, Heterozygote, Genes, Dominant, Phenotype, Mutation, Missense, Adolescent, Asian Continental Ancestry Group, Female, Cyclooxygenase 1, HEK293 Cells, Loss of Function Mutation, Humans, Hemorrhagic Disorders, Protein Processing, Post-Translational, Glycosylation, Platelet Activation, Heterozygote, Genes, Dominant, Phenotype, Mutation, Missense, Adolescent, Asian Continental Ancestry Group, Female, Cyclooxygenase 1, HEK293 Cells, Loss of Function Mutation, Adolescent, Asian Continental Ancestry Group, Cyclooxygenase 1, Female, Genes, Dominant, Glycosylation, HEK293 Cells, Hemorrhagic Disorders, Heterozygote, Humans, Loss of Function Mutation, Mutation, Missense, Phenotype, Platelet Activation, Protein Processing, Post-Translational, 1102 Cardiorespiratory Medicine and Haematology, Immunology
URI: https://e-space.mmu.ac.uk/id/eprint/628010
DOI: https://doi.org/10.1002/ajh.26076
ISSN 0361-8609
e-ISSN 1096-8652

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