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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...
Autores principales: | Malod-Dognin, Noël, Ceddia, Gaia, Gvozdenov, Maja, Tomić, Branko, Dunjić Manevski, Sofija, Djordjević, Valentina, Pržulj, Nataša |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2023
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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 |
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