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Article

Genotypic/phenotypic correlations in genetic hemochromatosis: evolution of diagnostic criteria.

Gastroenterology - 1 Feb 1998

Adams P C, Chakrabarti S

Abstract excerpt

BACKGROUND & AIMS: The identification of a candidate gene for hereditary hemochromatosis in 69%-100% of patients with hemochromatosis has resulted in a diagnostic genotypic test (C282Y). The aim of this study was to reassess the phenotypic diagnostic criteria for hemochromatosis in patients homozygous for the C282Y mutation of the HFE gene. METHODS: Transferrin saturation, ferritin, hepatic iron index, and iron...

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Source

Identifiers

PMID: 9453492
DOI: 10.1016/s0016-5085(98)70483-4

Genes

HFE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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