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Article

Two new human DMT1 gene mutations in a patient with microcytic anemia, low ferritinemia, and liver iron overload.

Blood - 15 May 2006

Beaumont Carole, Delaunay Jean, Hetet Gilles, Grandchamp Bernard, de Montalembert Mariane, Tchernia Gil

Abstract excerpt

DMT1 mediates the pH-dependent uptake of Fe(2+) from the diet in duodenal enterocytes and in most other cells. It transfers iron from the endosomes to the cytosol following the uptake of the transferrin-transferrin receptor complex. DMT1 mutations are responsible for severe hypochromic microcytic anemia in rodents and in 2 human patients described recently. We report a compound heterozygote for 2 new DMT1...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 16439678
DOI: 10.1182/blood-2005-10-4269

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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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