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Article

A novel homozygous frameshift deletion c.471del of HFE associated with hemochromatosis.

Clinical genetics - 1 Apr 2007

Cukjati M, Koren S, Curin Serbec V, Vidan-Jeras B, Rupreht R

Abstract excerpt

A 47-year-old white male patient who manifested biochemical evidence of iron overload was found not to be a carrier of the three most common mutations, C282Y, H63D and S65C, of the HFE gene. Sequencing of the patient's entire HFE-coding region revealed a presence of a previously undescribed frameshift deletion c.471del in exon 3 resulting in a premature termination of a nonsense HFE protein. Interestingly, the...

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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: 17470136
DOI: 10.1111/j.1399-0004.2007.00777.x

Genes

HFE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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