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Article

A novel homozygous stop-codon mutation in human HFE responsible for nonsense-mediated mRNA decay.

Blood cells, molecules & diseases - 1 Sept 2014

Padula Maria Carmela, Martelli Giuseppe, Larocca Marilena, Rossano Rocco, Olivieri Attilio

Abstract excerpt

HFE-hemochromatosis (HH) is an autosomal disease characterized by excessive iron absorption. Homozygotes for H63D variant, and still less H63D heterozygotes, generally do not express HH phenotype. The data collected in our previous study in the province of Matera (Basilicata, Italy) underlined that some H63D carriers showed altered iron metabolism, without additional factors. In this study, we selected a cohort...

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Source

Identifiers

PMID: 24920245
DOI: 10.1016/j.bcmd.2014.04.010

Genes

HFE

Variants

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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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