Article
Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene.
The Journal of clinical investigation - 1 Aug 2001
Montosi G, Donovan A, Totaro A, Garuti C, Pignatti E, Cassanelli S, Trenor C C, Gasparini P, Andrews N C, Pietrangelo A
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...
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