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Article

Hypoglycosylation is a common finding in antithrombin deficiency in the absence of a SERPINC1 gene defect.

Journal of thrombosis and haemostasis : JTH - 1 Aug 2016

de la Morena-Barrio M E, Martínez-Martínez I, de Cos C, Wypasek E, Roldán V, Undas A, van Scherpenzeel M, Lefeber D J, Toderici M, Sevivas T, España F, Jaeken J, Corral J, Vicente V

Abstract excerpt

UNLABELLED: Essentials We investigated the molecular base of antithrombin deficiency in cases without SERPINC1 defects. 27% of cases presented hypoglycosylation, transient in 62% and not restricted to antithrombin. Variations in genes involved in N-glycosylation underline this phenotype. These results support a new form of thrombophilia. Click here to listen to Dr Huntington's perspective on thrombin inhibition...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27214821
DOI: 10.1111/jth.13372

Genes

SERPINC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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