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Article

A novel factor V compound heterozygous mutation associated with thrombosis (Y1961C; FV-Kanazawa, together with 1982_1983del).

Journal of thrombosis and haemostasis : JTH - 1 Oct 2024

Shimonishi Naruto, Morishita Eriko, Ogiwara Kenichi, Maruyama Keiko, Yoshida Junko, Horie Kyoji, Nogami Keiji

Abstract excerpt

BACKGROUND: Factor (F)V is pivotal in both procoagulant and anticoagulant mechanisms. The present report describes a novel F5 mutation in a FV-deficient patient (FV activity, 6 IU/dL; FV antigen, 32 IU/dL) complicated by recurrent deep vein thrombosis. The patient demonstrated activated protein C resistance (APCR) with compound heterozygous mutations consisting of FV-Y1961C (FVKanazawa) and FV-1982_1983del....

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Source

Identifiers

PMID: 38950780
DOI: 10.1016/j.jtha.2024.06.014

Genes

APC
F5

Provenance

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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