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Article

Diagnosis of hemochromatosis in family members of probands: a comparison of phenotyping and HFE genotyping.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2000

Barton J C, Rothenberg B E, Bertoli L F, Acton R T

Abstract excerpt

PURPOSE: We wanted to compare phenotyping and HFE genotyping for diagnosis of hemochromatosis in 150 family members of 61 probands. METHODS: Phenotypes were defined by persistent transferrin saturation elevation, iron overload, or both; genotypes were defined by HFE mutation analysis. RESULTS: Tw...

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Source

Identifiers

PMID: 11336458
DOI: 10.1097/00125817-199903000-00005

Genes

HFE

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-11336458-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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