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Article

Causative genetic mutations for antithrombin deficiency and their clinical background among Japanese patients.

International journal of hematology - 1 Mar 2017

Sekiya Akiko, Taniguchi Fumina, Yamaguchi Daisuke, Kamijima Sayaka, Kaneko Shonosuke, Katsu Shiori, Hanamura Miho, Takata Mao, Nakano Haruka, Asakura Hidesaku, Ohtake Shigeki, Morishita Eriko

Abstract excerpt

We summarize causative genetic mutations for antithrombin (AT) deficiency and their clinical background in Japanese patients. A total of 19 mutations, including seven novel mutations, were identified. We also summarize clinical symptoms of thrombosis, age at onset, family history, and contributing factors for thrombosis, and review the use of prophylactic anticoagulation in pregnant women with heterozygous type...

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PMID: 27858332
DOI: 10.1007/s12185-016-2142-8

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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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