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Article

Uniparental disomy causes deficiencies of vitamin K-dependent proteins.

Journal of thrombosis and haemostasis : JTH - 1 Dec 2016

Dasi M A, Gonzalez-Conejero R, Izquierdo S, Padilla J, Garcia J L, Garcia-Barberá N, Argilés B, de la Morena-Barrio M E, Hernández-Sánchez J M, Hernández-Rivas J M, Vicente V, Corral J

Abstract excerpt

Essentials Vitamin K-dependent coagulant factor deficiency (VKCFD) is a rare autosomal recessive disorder. We describe a case of inherited VKCFD due to uniparental disomy. The homozygous mutation caused the absence of GGCX isoform 1 and overexpression of Δ2GGCX. Hepatic and non-hepatic vitamin K-dependent proteins must be assayed to monitor VKCFD treatment. SUMMARY: Background Inherited deficiency of all vitamin...

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Source

Identifiers

PMID: 27681307
DOI: 10.1111/jth.13517

Genes

GGCX
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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