Article
Zebrafish as a model for defining the functional impact of mammalian ferroportin mutations.
Blood - 15 Nov 2007
De Domenico Ivana, Vaughn Michael B, Yoon Donghoon, Kushner James P, Ward Diane M, Kaplan Jerry
Abstract excerpt
The term hemochromatosis represents a group of inherited disorders leading to iron overload. Mutations in HFE, HJV, and TfR2 cause autosomal-recessive forms of hemochromatosis. Mutations in ferroportin, however, result in dominantly inherited iron overload. Some mutations (H32R and N174I) in ferroportin lead to macrophage iron loading, while others (NI44H) lead to hepatocyte iron loading. Expression of H32R or...
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