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Liver pathology in compound heterozygous patients for hemochromatosis mutations.

Liver - 1 Aug 2002

Schöniger-Hekele Maximilian, Müller Christian, Polli Claudia, Wrba Friedrich, Penner Edward, Ferenci Peter

Abstract excerpt

BACKGROUND: While hepatic pathology of homozygous carriers of the C282Y mutation of the HFE haemochromatosis gene is well defined, the impact of the C282Y/H63D compound heterozygous carrier state is unknown. AIMS: To evaluate the range of hepatic pathology in C282Y/H63D compound heterozygous patients. PATIENTS: 25 C282Y/H63D compound heterozygous patients with and without known underlying liver disease underwent...

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Source

Identifiers

PMID: 12296962
DOI: 10.1034/j.1600-0676.2002.01597.x

Genes

HFE

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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