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Article

Molecular basis of type I antithrombin deficiency in two women with recurrent venous thromboembolism in the first trimester of pregnancy.

Blood cells, molecules & diseases - 15 Apr 2012

Xia Yan, Lu Qiu-Ya, Lu Ye-Ling, Dai Jing, Ding Qiu-Lan, Wang Xue-Feng, Xi Xiao-Dong, Wang Hong-Li

Abstract excerpt

Inherited antithrombin (AT) deficiency carries a 50% risk of venous thromboembolism (VTE) during pregnancy. Here, we investigated the molecular basis of type I AT deficiency in two women with recurrent VTE in the first trimester of pregnancy. Phenotype analysis showed both probands had almost 50% of normal AT levels. Two novel heterozygous AT mutations were identified: g.7920C>T resulting in a Trp225Cys mutation...

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Identifiers

PMID: 22424603
DOI: 10.1016/j.bcmd.2012.02.005

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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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