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Article

Detection of C282Y and H63D in the HFE gene.

Genetic testing - 1 Jan 2000

Pointon J J, Merryweather-Clarke A T, Carella M, Robson K J

Abstract excerpt

The gene for hemochromatosis was identified in 1996 and two mutations were found. Homozygosity for one of these, C282Y, is associated with hemochromatosis in a high percentage of patients. Genetic analysis of patient DNA is, therefore, a very useful tool to aid and confirm diagnosis and to screen asymptomatic relatives of patients to identify those at risk of developing this common, easily treated disease.

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Source

Identifiers

PMID: 10953949
DOI: 10.1089/10906570050114803

Genes

HFE

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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Detection of C282Y and H63D in the HFE gene.PMID 10953949Read ↗

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HFE mutations and hemochromatosis in Danish patients admitted for HFE genotyping.Semantic proximity Read ↗

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

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