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Article

Hemochromatosis mutations C282Y and H63D in 'cis' phase.

Clinical genetics - 1 Jul 2001

Best L G, Harris P E, Spriggs E L

Abstract excerpt

Homozygosity for the C282Y mutation of the HFE gene is a highly significant risk factor for the development of hereditary hemochromatosis (HH) and the majority of patients with HH have this genotype. An Irish/Belgian female with an elevated serum ferritin level and a family history of hemochromatosis was tested for the presence of the C282Y and H63D mutations. Results of digested PCR products have shown the...

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Source

Identifiers

PMID: 11531973
DOI: 10.1034/j.1399-0004.2001.600111.x

Genes

HFE

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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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Hemochromatosis mutations C282Y and H63D in 'cis' phase.PMID 11531973Read ↗

A rare case of a patient heterozygous for the hemochromatosis mutation C282Y and homozygous for H63D.Semantic proximity Read ↗

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

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

Genetic hemochromatosis, a Celtic disease: is it now time for population screening?Semantic proximity Read ↗

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

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

A novel mutation of HFE explains the classical phenotype of genetic hemochromatosis in a C282Y heterozygote.Semantic proximity Read ↗

C282Y/H63D Compound Heterozygosity Is a Low Penetrance Genotype for Iron Overload-related DiseaseSemantic proximity Read ↗

A rare variant on a common risk haplotype of <i>HFE</i> causes increased risk of hereditary hemochromatosisSemantic proximity Read ↗

Heterozygosity for the C282Y mutation in the hemochromatosis gene is associated with increased serum iron, transferrin saturation, and hemoglobin in young women: a protective role against iron deficiency?Semantic proximity Read ↗

A novel (Leu183Pro-)mutation in the HFE-gene co-inherited with the Cys282Tyr mutation in two unrelated Dutch hemochromatosis patients.Semantic proximity Read ↗

HFE C282Y homozygotes are at increased risk of breast and colorectal cancer.Semantic proximity Read ↗

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