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Article

Distribution of HFE C282Y and H63D mutations in the Balearic Islands (NE Spain).

Clinical genetics - 1 Jan 2002

Guix P, Picornell A, Parera M, Galmes A, Obrador A, Ramon M M, Castro J A

Abstract excerpt

The HFE gene contains two main missense mutations: C282Y and H63D. Individuals with these mutations carry a risk of developing hereditary haemochromatosis (HH). The common form of this disease is due to homozygosity for the C282Y mutation. Population studies have shown the variation of the prevalence of these mutations in different countries and ethnic groups. The purposes of this current study were to determine...

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Source

Identifiers

PMID: 11903355
DOI: 10.1034/j.1399-0004.2002.610109.x

Genes

HFE

Variants

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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Distribution of HFE C282Y and H63D mutations in the Balearic Islands (NE Spain).PMID 11903355Read ↗

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Frequency of HFE gene mutations C282Y and H63D in Bosnia and Herzegovina.Semantic proximity Read ↗

Frequency of the C282Y and H63D mutations of the hemochromatosis gene (HFE) in a cohort of 1,000 neonates in Madrid (Spain).Semantic proximity Read ↗

Distribution of the C282Y and H63D polymorphisms in hereditary hemochromatosis patients from the French Basque Country.Semantic proximity Read ↗

Frequencies of C282Y and H63D alleles in the HFE gene among various Jewish ethnic groups in Israel: a change of concept required.Semantic proximity Read ↗

Analysis of haemochromatosis gene mutations in a population from the Mediterranean Basin.Semantic proximity Read ↗

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