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Article

The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22.

Nature genetics - 1 May 2000

Camaschella C, Roetto A, Calì A, De Gobbi M, Garozzo G, Carella M, Majorano N, Totaro A, Gasparini P

Abstract excerpt

Haemochromatosis is a common recessive disorder characterized by progressive iron overload, which may lead to severe clinical complications. Most patients are homozygous for the C282Y mutation in HFE on 6p (refs 1-5). A locus for juvenile haemochromatosis (HFE2) maps to 1q (ref. 7). Here we report a new locus (HFE3) on 7q22 and show that a homozygous nonsense mutation in the gene encoding transferrin receptor-2...

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Source

Identifiers

PMID: 10802645
DOI: 10.1038/75534

Genes

TFR2
HFE

Provenance

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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The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22.PMID 10802645Read ↗

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