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Article

[A new method of molecular testing in the differential diagnosis of hereditary hemochromatosis].

Orvosi hetilap - 7 Nov 1999

Andrikovics H, Klein I, Kalmár L, Bors A, Jermendy G, Petri I, Kalász L, Váradi A, Tordai A

Abstract excerpt

Hereditary hemochromatosis is an autosomal, recessive disorder of the iron metabolism. The hemochromatosis gene (HFE) was previously located on chromosome 6 and recently identified by positional cloning. A point mutation, C282Y, was found to be present in the HFE gene in homozygous form in 64 to 100% of patients with established hemochromatosis. The relationship of a second polymorphic variant of the HFE gene,...

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Source

Identifiers

PMID: 10586619

Genes

HFE

Variants

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.

Related research

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[A new method of molecular testing in the differential diagnosis of hereditary hemochromatosis].PMID 10586619Read ↗

[Molecular genetics of hemochromatosis].Semantic proximity Read ↗

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

[Hemochromatosis. Determination of the C282Y mutation frequency in the population of the Czech Republic and sensitivity of hemochromatosis detection using Guthrie cards].Semantic proximity Read ↗

Prevalence of H63D, S65C and C282Y hereditary hemochromatosis gene mutations in Slovenian population by an improved high-throughput genotyping assay.Semantic proximity Read ↗

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

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

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

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

[Molecular genetic diagnosis in hemochromatosis].Semantic proximity Read ↗

Haemochromatosis: automated detection of the two point mutations in the HFE gene: Cys282Tyr and His63Asp.Semantic proximity Read ↗

[Practical use of genetic markers other than C282Y in iron overload disorders].Semantic proximity Read ↗

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

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