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MPI-CDG with transient hypoglycosylation and antithrombin deficiency

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Antithrombin deficiency is a strong risk factor for venous thromboembolism (VTE) whose testing has demonstrated usefulness.[1][1]–[5][2] Most cases of antithrombin deficiency are explained by mutations in SERPINC1 , the gene… Click to show full abstract

Antithrombin deficiency is a strong risk factor for venous thromboembolism (VTE) whose testing has demonstrated usefulness.[1][1]–[5][2] Most cases of antithrombin deficiency are explained by mutations in SERPINC1 , the gene encoding this anticoagulant, with detection rate ranging from 70–80%.[6

Keywords: transient hypoglycosylation; mpi cdg; hypoglycosylation antithrombin; antithrombin deficiency; cdg transient; deficiency

Journal Title: Haematologica
Year Published: 2018

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