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Identification of a human mutation of DMT1 in a patient with microcytic anemia and iron overload.

Blood - 1 Feb 2005

Mims Martha P, Guan Yongli, Pospisilova Dagmar, Priwitzerova Monika, Indrak Karel, Ponka Prem, Divoky Vladimir, Prchal Josef T

Abstract excerpt

Divalent metal transporter 1 (DMT1) is a transmembrane protein crucial for duodenal iron absorption and erythroid iron transport. DMT1 function has been elucidated largely in studies of the mk mouse and the Belgrade rat, which have an identical single nucleotide mutation of this gene that affects protein processing, stability, and function. These animals exhibit hypochromic microcytic anemia due to impaired...

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Identifiers

PMID: 15459009
DOI: 10.1182/blood-2004-07-2966

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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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Identification of a human mutation of DMT1 in a patient with microcytic anemia and iron overload.PMID 15459009Read ↗

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