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Article

[The usefulness of the detection of Cys282Tyr and His63Asp mutations in the diagnosis of hereditary hemochromatosis].

Revista clinica espanola - 1 Oct 1999

Moreno L, Vallcorba P, Boixeda D, Cabello P, Bermejo F, San Román C

Abstract excerpt

BACKGROUND: Hemochromatosis is a hereditary disease the diagnosis and early therapy of which is particularly relevant to prevent the appearance of complications. In 1996, the gene responsible for this condition was identified and was named HFE. OBJECTIVE: To determine the prevalence of Cys282Tyr (C282Y) and His63Asp (H63D) mutations in the HFE gene in a group of patients with the confirmed diagnosis of hereditary...

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Source

Identifiers

PMID: 10589245

Genes

HFE

Variants

Provenance

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

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Related research

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Research trail→

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[The usefulness of the detection of Cys282Tyr and His63Asp mutations in the diagnosis of hereditary hemochromatosis].PMID 10589245Read ↗

[The importance of DNA analysis of C282Y, H63D and S65C mutations in the HFE gene].Semantic proximity Read ↗

[The hemochromatosis gene (HFE). Molecular analysis--diagnostic applications].Semantic proximity Read ↗

[Diagnosis of haemochromatosis].Semantic proximity Read ↗

[Genetic hemochromatosis and the HFE gene].Semantic proximity Read ↗

Hereditary hemochromatosis since discovery of the HFE gene.Semantic proximity Read ↗

[Clinical and genetic aspects of hereditary hemochromatosis].Semantic proximity Read ↗

Prevalence of the Cys282Tyr and His63Asp HFE gene mutations in Spanish patients with hereditary hemochromatosis and in controls.Semantic proximity Read ↗

[Molecular diagnosis of HFE mutations in routine laboratories. Results of a survey from reference laboratories in France].Semantic proximity Read ↗

[A new method of molecular testing in the differential diagnosis of hereditary hemochromatosis].Semantic proximity Read ↗

[Hemochromatosis International: therapeutic recommendations in HFE hemochromatosis for p.Cys282Tyr homozygous genotype].Semantic proximity Read ↗

Mutations in the HFE gene (C282Y, H63D, S65C) in a Brazilian populationSemantic proximity Read ↗

[Diagnosis and treatment of primary hemochromatosis].Semantic proximity Read ↗

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