Article
Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis.
Blood - 15 Jul 2002
Wallace Daniel F, Pedersen Palle, Dixon Jeannette L, Stephenson Peter, Searle Jeffrey W, Powell Lawrie W, Subramaniam V Nathan
Abstract excerpt
Hemochromatosis is a common disorder characterized by excess iron absorption and accumulation of iron in tissues. Usually hemochromatosis is inherited in an autosomal recessive pattern and is caused by mutations in the HFE gene. Less common non-HFE-related forms of hemochromatosis have been reported and are caused by mutations in the transferrin receptor 2 gene and in a gene localized to chromosome 1q. Autosomal...
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