Articles with "mpi cdg" as a keyword



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MPI-CDG with transient hypoglycosylation and antithrombin deficiency

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Published in 2018 at "Haematologica"

DOI: 10.3324/haematol.2018.211326

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… read more here.

Keywords: transient hypoglycosylation; mpi cdg; hypoglycosylation antithrombin; antithrombin deficiency ... See more keywords