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

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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Bibliographic Details
Main Authors: Noël Malod-Dognin, Gaia Ceddia, Maja Gvozdenov, Branko Tomić, Sofija Dunjić Manevski, Valentina Djordjević, Nataša Pržulj
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2023-01-01
Series:PLoS ONE
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10128975/?tool=EBI

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