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Article

Novel mutation in ferroportin 1 gene is associated with autosomal dominant iron overload.

Journal of hepatology - 1 Aug 2003

Jouanolle Anne-Marie, Douabin-Gicquel Véronique, Halimi Chantal, Loréal Olivier, Fergelot Patricia, Delacour Thierry, de Lajarte-Thirouard Anne-Sophie, Turlin Bruno, Le Gall Jean-Yves, Cadet Estelle, Rochette Jacques, David Véronique, Brissot Pierre

Abstract excerpt

We report a family affected with dominant autosomal iron overload related to a new mutation in ferroportin 1, a transmembrane protein involved in the export of iron from duodenal enterocytes and likely from macrophages. The originality of this family is represented by the nature of the mutation consisting in the replacement of glycine 490 with aspartate. Clinicians should be aware of this novel iron overload...

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Identifiers

PMID: 12873829
DOI: 10.1016/s0168-8278(03)00148-x

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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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