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Article

Expression of HLA-linked hemochromatosis in subjects homozygous or heterozygous for the C282Y mutation.

Gastroenterology - 1 May 1998

Crawford D H, Jazwinska E C, Cullen L M, Powell L W

Abstract excerpt

BACKGROUND & AIMS: In the absence of a genetic test, diagnostic criteria for hereditary hemochromatosis have been imprecise. The identification of the HFE gene and the C282Y mutation allow definition of expression of this disease and reassessment of diagnostic criteria. The aim of this study was to analyze the concordance between the genetic diagnosis and the previous clinical diagnosis in families with...

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Source

Identifiers

PMID: 9558290
DOI: 10.1016/s0016-5085(98)70320-8

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

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Expression of HLA-linked hemochromatosis in subjects homozygous or heterozygous for the C282Y mutation.PMID 9558290Read ↗

Haemochromatosis-associated HFE genotypes in English blood donors: age-related frequency and biochemical expression.Semantic proximity Read ↗

HFE gene mutation (C282Y) and phenotypic expression among a hospitalised population in a high prevalence area of haemochromatosis.Semantic proximity Read ↗

High prevalence of the hemochromatosis-associated Cys282Tyr HFE gene mutation in a healthy Norwegian population in the city of Oslo, and its phenotypic expression.Semantic proximity Read ↗

HFE based re-evaluation of heterozygous hemochromatosis.Semantic proximity Read ↗

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

A population-based study of the clinical expression of the hemochromatosis gene.Semantic proximity Read ↗

HLA haplotype A*03-B*07 in hemochromatosis probands with HFE C282Y homozygosity: frequency disparity in men and women and lack of association with severity of iron overloadSemantic proximity Read ↗

Phenotype variation in C282Y homozygotes for the hemochromatosis gene.Semantic proximity Read ↗

Clinical expression of haemochromatosis in Irish C282Y homozygotes identified through family screening.Semantic proximity Read ↗

Genotyping as a diagnostic aid in genetic haemochromatosis.Semantic proximity Read ↗

Genotypic/phenotypic correlations in genetic hemochromatosis: evolution of diagnostic criteria.Semantic proximity Read ↗

Best practice guidelines for the molecular genetic diagnosis of Type 1 (HFE-related) hereditary haemochromatosis.Semantic proximity Read ↗

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