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Article

HFE gene mutations analysis in Basque hereditary haemochromatosis patients and controls.

European journal of human genetics : EJHG - 1 Dec 2001

de Juan D, Reta A, Castiella A, Pozueta J, Prada A, Cuadrado E

Abstract excerpt

C282Y/C282Y genotype is the prevalent genotype in Hereditary Haemochromatosis (HH), however, other genotypes have been associated with the disease. The objective of our study was to analyse the frequency of the three main mutations of HFE gene in HH patients and controls from the Basque population with differential genetic characteristics. Thirty five HH patients and 116 controls were screened for C282Y, H63D and...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11840200
DOI: 10.1038/sj.ejhg.5200731

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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