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Article

Vitamin K-induced modification of coagulation phenotype in VKORC1 homozygous deficiency.

Journal of thrombosis and haemostasis : JTH - 1 May 2008

Marchetti G, Caruso P, Lunghi B, Pinotti M, Lapecorella M, Napolitano M, Canella A, Mariani G, Bernardi F

Abstract excerpt

BACKGROUND: Combined vitamin K-dependent clotting factor (VKCF) deficiency type 2 (VKCFD2) is a rare bleeding disorder caused by mutated vitamin K 2,3-epoxide reductase complex subunit 1 (VKORC1) gene. METHODS AND RESULTS: An Italian patient with moderate to severe bleeding tendency was genotyped, and found to be homozygous for the unique VKORC1 mutation (Arg98Trp) so far detected in VKCFD2. The activity levels...

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Source

Identifiers

PMID: 18315553
DOI: 10.1111/j.1538-7836.2008.02934.x

Genes

VKORC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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