Article

Autosomal-dominant hemochrom-atosis is associated with a mutation in the ferroportin (SLC11A3) gene

2001-08-15

Abstract excerpt

Hemochromatosis is a progressive iron overload disorder that is prevalent among individuals of European descent. It is usually inherited in an autosomal-recessive pattern and associated with missense mutations in HFE, an atypical major histocompatibility class I gene. Recently, we described a large family with autosomal-dominant hemochromatosis not linked to HFE and distinguished by early iron accumulation in reti...

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Literature Corpus work: ef7ebfa0-4a8b-58fd-a13f-d4cfc07c7b91
DOI: 10.1172/jci200113468

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