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Article

The HFE Cys282Tyr mutation as a necessary but not sufficient cause of clinical hereditary hemochromatosis.

Blood - 1 May 2003

Beutler Ernest

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Source

Identifiers

PMID: 12707220
DOI: 10.1182/blood-2002-06-1747

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The HFE Cys282Tyr mutation as a necessary but not sufficient cause of clinical hereditary hemochromatosis.PMID 12707220Read ↗

Pathophysiological consequences and benefits of HFE mutations: 20 years of research.Semantic proximity Read ↗

Therapeutic recommendations in HFE hemochromatosis for p.Cys282Tyr (C282Y/C282Y) homozygous genotypeSemantic proximity Read ↗

Rare HFE variants are the most frequent cause of hemochromatosis in non-c282y homozygous patients with hemochromatosis.Semantic proximity Read ↗

Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network.Semantic proximity Read ↗

Clinical haemochromatosis in HFE mutation carriers.Semantic proximity Read ↗

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

Uncommon mutations and polymorphisms in the hemochromatosis gene.Semantic proximity Read ↗

Cardiac hemochromatosis in an HFE His63Asp (187C->G) heterozygote.Semantic proximity Read ↗

Genetic and metabolic factors are associated with increased hepatic iron stores in a selected population of p.Cys282Tyr heterozygotes.Semantic proximity Read ↗

Detection of C282Y and H63D in the HFE gene.Semantic proximity Read ↗

Nonexpressing homozygotes for C282Y hemochromatosis: minority or majority of cases?Semantic proximity Read ↗

Iron overload in HFE C282Y heterozygotes at first genetic testing: a strategy for identifying rare HFE variants.Semantic proximity Read ↗

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