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Article

Characterization of vitamin K-dependent carboxylase mutations that cause bleeding and nonbleeding disorders.

Blood - 14 Apr 2016

Tie Jian-Ke, Carneiro Jorge D A, Jin Da-Yun, Martinhago Ciro D, Vermeer Cees, Stafford Darrel W

Abstract excerpt

Vitamin K-dependent coagulation factors deficiency is a bleeding disorder mainly associated with mutations in γ-glutamyl carboxylase (GGCX) that often has fatal outcomes. Some patients with nonbleeding syndromes linked to GGCX mutations, however, show no coagulation abnormalities. The correlation between GGCX genotypes and their clinical phenotypes has been previously unknown. Here we report the identification...

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Source

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Identifiers

PMID: 26758921
DOI: 10.1182/blood-2015-10-677633
PMCID: PMC4832504

Genes

GGCX
MGP

Variants

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.

Related research

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Characterization of vitamin K-dependent carboxylase mutations that cause bleeding and nonbleeding disorders.PMID 26758921Read ↗

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