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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 and Crescente, Marilena and de la Morena, María Eugenia and Chan, Melissa V and Almarza, Elena and Revilla, Nuria and Bohdan, Natalia and Miñano, Antonia and Padilla, José and Allan, Harriet E and Maffucci, Tania and Edin, Matthew L and Zeldin, Darryl C and Mesa-Nuñez, Cristina and Damian, Carlos and Marín-Quilez, Ana and Benito, Rocío and Martínez-Martínez, Irene and Bermejo, Nuria and Casas-Aviles, Ignacio and Rodríguez-Alen, Agustín and González-Porras, José R and Hernández-Rivas, Jesús María and Vicente, Vicente and Corral, Javier and Lozano, María L and Warner, Timothy D and 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
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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