Two SERPINC1 variants affecting N-glycosylation of Asn224 cause severe thrombophilia not detected by functional assays
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DOI: 10.1182/blood.2021014708
Abstract: Antithrombin (AT), encoded by the gene SERPINC1, is a serine protease inhibitor whose deficiency causes a severe form of dominantly inherited thrombophilia. de la Morena-Barrio et al describe 2 novel variants of AT with altered… read more here.
Keywords: severe thrombophilia; affecting glycosylation; two serpinc1; glycosylation ... See more keywords