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Article

A novel HFE mutation (c.del478) results in nonsense-mediated decay of the mutant transcript in a hemochromatosis patient.

Blood cells, molecules & diseases - 1 Jan 2000

Pointon Jennifer J, Lok Chun Yu, Shearman Jeremy D, Suckling Richard J, Rochette Jacques, Merryweather-Clarke Alison T, Robson Kathryn J H

Abstract excerpt

On admission to hospital Caucasian 61 year old male with jaundice was found to have unexplained increased serum iron indices. He had bilateral peripheral arthritis. On further investigation he had grade II hepatocellular iron staining and a hepatic index of 5.4 leading to a diagnosis of hereditar...

Read the complete abstract on PubMed

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Histocompatibility Antigens Class I

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Source

Identifiers

PMID: 19477142
DOI: 10.1016/j.bcmd.2009.04.007

Genes

HFE
HAMP
HJV
TFR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19477142-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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A novel HFE mutation (c.del478) results in nonsense-mediated decay of the mutant transcript in a hemochromatosis patient.PMID 19477142Read ↗

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