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Antithrombin-p.Ala416Pro: the second reported case in Japan.

Internal medicine (Tokyo, Japan) - 1 Jan 2014

Shigekiyo Toshio, Sekimoto Etsuko, Shibata Hironobu, Ozaki Shuji, Kurushima Atsushi, Aihara Ken-ichi

Abstract excerpt

A 42-year-old man was referred to our department due to recurrent deep venous thrombosis. He, his father and his aunt had low antithrombin (AT) heparin cofactor activity and progressive AT activity levels with normal AT antigen levels. A single nucleotide substitution of G to C was found at nucleotide position c.1246 in exon 7 of the patient's AT gene, resulting in a p.Ala416Pro mutation of AT. The same mutation...

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PMID: 24583439
DOI: 10.2169/internalmedicine.53.1087

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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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