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Article

Thrombosis from a prothrombin mutation conveying antithrombin resistance.

The New England journal of medicine - 21 Jun 2012

Miyawaki Yuhri, Suzuki Atsuo, Fujita Junko, Maki Asuka, Okuyama Eriko, Murata Moe, Takagi Akira, Murate Takashi, Kunishima Shinji, Sakai Michio, Okamoto Kohji, Matsushita Tadashi, Naoe Tomoki, Saito Hidehiko, Kojima Tetsuhito

Abstract excerpt

We identified a novel mechanism of hereditary thrombosis associated with antithrombin resistance, with a substitution of arginine for leucine at position 596 (p.Arg596Leu) in the gene encoding prothrombin (called prothrombin Yukuhashi). The mutant prothrombin had moderately lower activity than wild-type prothrombin in clotting assays, but the formation of thrombin-antithrombin complex was substantially impaired....

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PMID: 22716977
DOI: 10.1056/NEJMoa1201994

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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