Antithrombin deficiency: no sugar, no diagnosis!
Blood(2022)
摘要
In this issue of Blood, de la Morena-Barrio et al(1) describe 2 novel variants of antithrombin (AT) with altered glycosylation profiles. This study found that although these mutations are undoubtedly associated with thrombophilia, carriers are not identified using routine testing for AT deficiency.
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