Article
Iron overload due to mutations in ferroportin.
Haematologica - 1 Jan 2006
De Domenico Ivana, Ward Diane McVey, Musci Giovanni, Kaplan Jerry
Abstract excerpt
Iron overload disease due to mutations in ferroportin has a dominant inheritance and a variable clinical phenotype, such that some patients show early Küpffer cell iron loading and low transferrin saturation, while others show hepatocyte iron loading and high transferrin saturation. Studies expressing ferroportin mutant proteins in cultured cells have shown that mutant proteins fall into two main classes;...
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