Article
The molecular basis of ferroportin-linked hemochromatosis.
Proceedings of the National Academy of Sciences of the United States of America - 21 Jun 2005
De Domenico Ivana, Ward Diane McVey, Nemeth Elizabeta, Vaughn Michael B, Musci Giovanni, Ganz Tomas, Kaplan Jerry
Abstract excerpt
Mutations in the iron exporter ferroportin (Fpn) (IREG1, SLC40A1, and MTP1) result in hemochromatosis type IV, a disorder with a dominant genetic pattern of inheritance and heterogeneous clinical presentation. Most patients develop iron loading of Kupffer cells with relatively low saturation of plasma transferrin, but others present with high transferrin saturation and iron-loaded hepatocytes. We show that known...
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