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Article

Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis.

Nature genetics - 1 Jan 2003

Roetto Antonella, Papanikolaou George, Politou Marianna, Alberti Federica, Girelli Domenico, Christakis John, Loukopoulos Dimitris, Camaschella Clara

Abstract excerpt

Animal models indicate that the antimicrobial peptide hepcidin (HAMP; OMIM 606464) is probably a key regulator of iron absorption in mammals. Here we report the identification of two mutations (93delG and 166C-->T) in HAMP on 19q13 in two families with a new type of juvenile hemochromatosis.

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12469120
DOI: 10.1038/ng1053

Genes

HAMP

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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Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis.PMID 12469120Read ↗

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