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Article

Seeking candidate mutations that affect iron homeostasis.

Blood cells, molecules & diseases - 1 Jan 2000

Lee Pauline, Gelbart Terri, West Carol, Halloran Carol, Beutler Ernest

Abstract excerpt

Hereditary hemochromatosis is characterized by marked variation of expression of the defect: very few homozygotes with the C282Y/C282Y HFE genotype have full-blown clinical disease, a larger number show biochemical stigmata of iron overload, and some seem normal biochemically. The following candidate genes have been examined in detail to determine whether polymorphisms in them may be responsible for this...

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Share to Amino Acid Substitution
Share to Hemochromatosis Protein
Share to Histocompatibility Antigens Class I

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Membrane Proteins

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Share to Polymorphism, Genetic

Source

Identifiers

PMID: 12547238
DOI: 10.1006/bcmd.2002.0586

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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