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Article

Genetic analysis should be included in clinical practice when screening for antithrombin deficiency.

Thrombosis and haemostasis - 1 Feb 2015

Zeng Wei, Tang Liang, Jian Xiao-Rong, Li Yi-Qing, Guo Tao, Wang Qing-Yun, Liu Hui, Wu Ying-Ying, Cheng Zhi-Peng, Hu Bei, Lu Xuan, Yu Jian-Ming, Deng Jun, Wang Hua-Fang, Sun Chun-Yan, Yang Yan, Hu Yu

Abstract excerpt

Antithrombin (AT) deficiency increases the risk of thrombosis. Current evidence shows that some SERPINC1 mutations responsible for antithrombin deficiency often present a slightly decreased or normal activity and therefore could not be detected by functional tests. This study was designed to compare activity assays and direct genetic analyses in identifying hereditary antithrombin deficiency. In total, 400...

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Identifiers

PMID: 25298121
DOI: 10.1160/TH14-05-0446

Genes

SERPINC1

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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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