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Article

Characterization of two novel mutations of the antithrombin gene observed in Japanese thrombophilic patients.

Thrombosis research - 1 Jan 2005

Kurihara Masako, Watanabe Kumiko, Inoue Sumiko, Wada Yui, Ono Miyuki, Wakiyama Machiko, Iida Hiroko, Kinoshita Sachiko, Hamasaki Naotaka

Abstract excerpt

We investigated the molecular basis of reduced functional levels of antithrombin (AT) in two individuals suffering from thromboembolic events. In each case direct sequencing of amplified DNA revealed 13,260-13,262 del in one patient and 2511C>A in the other patient, predicting a heterozygous E381del and P16H, respectively. Both patients had no 20210A allele and factor V Leiden mutation. To understand the...

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Identifiers

PMID: 15733967
DOI: 10.1016/j.thromres.2004.08.025

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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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