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Article

Prevalence of the C282Y, H63D, and S65C mutations of the HFE gene in 1,146 newborns from a region of Northern Spain.

Genetic testing - 1 Jan 2004

Altes Albert, Ruiz Angels, Barceló Ma Jesus, Remacha Angel Francisco, Puig Teresa, Maya Antonio José, Castell Conxa, Amate Jose Ma, Saz Zuleika, Baiget Montserrat

Abstract excerpt

In Spain, 85% of patients with genetic hemochromatosis (GH) are homozygous for the C282Y mutation of the HFE gene. H63D and S65C mutations of HFE may also play some role in the disease. The aim of this study was to establish the prevalence of C282Y, H63D, and S65C mutations of the HFE gene in newborns in Catalonia, Spain. One thousand one hundred forty-six newborn screening cards were selected randomly. DNA from...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Histocompatibility Antigens Class I

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Source

Identifiers

PMID: 15684872
DOI: 10.1089/gte.2004.8.407

Genes

HFE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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