GNPAT variant (D519G) is not associated with an elevated serum ferritin or iron removed by phlebotomy in patients referred for C282Y-linked hemochromatosis.

doi:10.5604/16652681.1222109

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Article

GNPAT variant (D519G) is not associated with an elevated serum ferritin or iron removed by phlebotomy in patients referred for C282Y-linked hemochromatosis.

Annals of hepatology - 1 Jan 2000

Levstik Alexander, Stuart Alan, Adams Paul C

Abstract excerpt

BACKGROUND: Previous studies in high and low expressors has demonstrated that a variant in the GNPAT gene (D519G, Rs11558492, chromosome 1, exon 11) has been associated with severe iron overload in C282Y homozygotes for hemochromatosis. In this study, a GNPAT variant was assessed prospectively in patients referred for HFE testing over a range of serum ferritin levels. MATERIAL AND METHODS: Consecutive patients...

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Identifiers

PMID: 27740525
DOI: 10.5604/16652681.1222109

Genes

GNPAT
HFE

Variants

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

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