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Factor XII Shizuoka, a novel mutation (Ala392Thr) identified and characterized in a patient with congenital coagulation factor XII deficiency.

Thrombosis research - 1 Jan 2005

Oguchi Shuji, Ishii Keiko, Moriki Takanori, Takeshita Eiko, Murata Mitsuru, Ikeda Yasuo, Watanabe Kiyoaki

Abstract excerpt

We identified a novel mutation (Ala392Thr) in the factor XII (FXII) gene of a patient with congenital FXII deficiency, designated Factor XII Shizuoka. The proband was an asymptomatic 63-year-old Japanese male with an abnormal coagulation test, discovered by chance during preoperative testing. The FXII activity was under 3% and antigen level was under 10%. Sequence analysis of the proband's FXII gene revealed a...

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Identifiers

PMID: 15617741
DOI: 10.1016/j.thromres.2004.08.027

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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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