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Article

Molecular mechanisms of antithrombin deficiency in two Chinese families. One novel and one recurrent point mutation in the antithrombin gene causing venous thrombosis.

Thrombosis and haemostasis - 1 Dec 2005

Zhou Rong-Fu, Fu Qi-Hua, Wang Wen-Bin, Xie Shuang, Dai Jin, Ding Qiu-Lan, Wang Xue-Feng, Wang Hong-Li, Wang Zhen-Yi

Abstract excerpt

We investigated the molecular mechanisms responsible for type I congenital antithrombin (AT) deficiency in two unrelated Chinese pedigrees manifesting multiple site venous thrombosis. Phenotype analysis showed both probands had almost 50% of normal AT levels. Direct sequencing of amplified DNA revealed 2757C > T in proband 1 and 13328G > A in proband 2, predicting a heterozygous Thr98Ile (T981) and Ala404Thr...

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PMID: 16411389
DOI: 10.1160/TH05-06-0450

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

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