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Article

New TFR2 mutations in young Italian patients with hemochromatosis.

Haematologica - 1 Feb 2008

Biasiotto Giorgio, Camaschella Clara, Forni Gian Luca, Polotti Anna, Zecchina Gabriella, Arosio Paolo

Abstract excerpt

This work describes the identification of two subjects with young-age iron overload carrying new causative mutations in transferrin receptor-2 gene. One was compound heterozygous (Asn411del/Ala444Thr) and the second was homozygous for a mutation affecting RNA splicing (IVS17+5636G>A). Another mut...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18245657
DOI: 10.3324/haematol.11942

Genes

TFR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-18245657-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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