A novel genetic variant in PTGS1 affects N-glycosylation of cyclooxygenase-1 causing a dominant-negative effect on platelet function and bleeding diathesis.
作者信息
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
机构信息
Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, Murcia, Spain.
Centre for Immunobiology, Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University London, London, UK.
出版信息
Am J Hematol. 2021 Mar 1;96(3):E83-E88. doi: 10.1002/ajh.26076. Epub 2021 Jan 5.
Abstract
摘要
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