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Article

Atypical haemochromatosis: phenotypic spectrum and beta2-microglobulin candidate gene analysis.

Journal of medical genetics - 1 Jul 1999

Walker A P, Wallace D F, Partridge J, Bomford A B, Dooley J S

Abstract excerpt

Beta2-microglobulin was investigated in atypical haemochromatosis patients not homozygous for the C282Y mutation of HFE (OMIM *235200), because the HFE protein binds beta2-microglobulin, and in mice beta2-microglobulin gene knockout causes hepatic iron overload. Six unrelated patients with atypical haemochromatosis were studied. Five patients had normal HFE coding sequence and the sixth was heterozygous for...

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Source

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Identifiers

PMID: 10424814
PMCID: PMC1734400

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.

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