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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 th...

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Source

Identifiers

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

Genes

HFE

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24920245-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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