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A phenotype driven integrative framework uncovers molecular mechanisms of a rare hereditary thrombophilia

Antithrombin resistance is a rare subtype of hereditary thrombophilia caused by prothrombin gene variants, leading to thrombotic disorders. Recently, the Prothrombin Belgrade variant has been reported as a specific variant that leads to antithrombin resistance in two Serbian families with thrombosis...

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Detalles Bibliográficos
Autores principales: Malod-Dognin, Noël, Ceddia, Gaia, Gvozdenov, Maja, Tomić, Branko, Dunjić Manevski, Sofija, Djordjević, Valentina, Pržulj, Nataša
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10128975/
https://www.ncbi.nlm.nih.gov/pubmed/37098010
http://dx.doi.org/10.1371/journal.pone.0284084