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Article

Comprehensive hereditary hemochromatosis genotyping.

Tissue antigens - 1 Dec 2002

Jones D C, Young N T, Pigott C, Fuggle S V, Barnardo M C N M, Marshall S E, Bunce M

Abstract excerpt

Hereditary hemochromatosis (HH) is an iron-overload disease common in populations of Northern European origin. Patients display increased iron absorption leading to excessive iron deposition and potential multiorgan failure. Using polymerase chain reaction sequence-specific primer (PCR-SSP) technology, we have developed an HH diagnosis assay capable of detecting 19 non-synonymous HFE mutations (including a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12542741
DOI: 10.1034/j.1399-0039.2002.600603.x

Genes

HFE
TFR2

Variants

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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