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Article

Hereditary hemochromatosis: detection of C282Y and H63D mutations in HFE gene by means of guthrie cards in population of Czech Republic.

Genetic epidemiology - 1 Oct 2002

Cimburova Marketa, Putova Ivana, Provaznikova Hana, Horak Jiri

Abstract excerpt

The aim of this study was to establish the prevalence of HFE gene mutations in the population of the Czech Republic. Altogether, 257 randomly selected newborn screening cards (Guthrie cards) were analyzed for the C282Y and H63D mutations within the HFE gene. Complete results were obtained from 254 cards for the C282Y mutation and 257 cards for the H63D mutation. No sample was identified as homozygous for C282Y,...

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Source

Identifiers

PMID: 12384978
DOI: 10.1002/gepi.10201

Genes

HFE

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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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