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Article

Analysis of haemochromatosis gene mutations in a population from the Mediterranean Basin.

Liver - 1 Aug 2001

Campo S, Restuccia T, Villari D, Raffa G, Cucinotta D, Squadrito G, Pollicino T, Raimondo G

Abstract excerpt

BACKGROUND/AIMS: The C282Y mutation in the haemochromatosis gene (HFE) located on chromosome 6 has been identified as the main genetic basis of hereditary haemochromatosis (HH). Two more mutations of that gene, H63D and S65C, appear to be associated with milder forms of HH. A high allele frequency for C282Y and H63D mutations was reported in populations from North Europe, while incomplete information is available...

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Share to Chromosomes, Human, Pair 6
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11454185
DOI: 10.1034/j.1600-0676.2001.021004233.x

Genes

HFE

Provenance

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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Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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Analysis of haemochromatosis gene mutations in a population from the Mediterranean Basin.PMID 11454185Read ↗

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