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Article

Impact of the type of SERPINC1 mutation and subtype of antithrombin deficiency on the thrombotic phenotype in hereditary antithrombin deficiency.

Thrombosis and haemostasis - 1 Feb 2014

Luxembourg Beate, Pavlova Anna, Geisen Christof, Spannagl Michael, Bergmann Frauke, Krause Manuela, Alesci Sonja, Seifried Erhard, Lindhoff-Last Edelgard

Abstract excerpt

Mutations in the antithrombin (AT) gene can impair the capacity of AT to bind heparin (AT deficiency type IIHBS), its target proteases such as thrombin (type IIRS), or both (type IIPE). Type II AT deficiencies are almost exclusively caused by missense mutations, whereas type I AT deficiency can originate from missense or null mutations. In a retrospective cohort study, we investigated the impact of the type of...

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Source

Identifiers

PMID: 24196373
DOI: 10.1160/TH13-05-0402

Genes

SERPINC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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