Molecular and clinical correlates in iron overload associated with mutations in ferroportin

Mutations in ferroportin (Fpn) result in iron overload. We correlate the behavior of three Fpn mutants in vitro with patients’ phenotypes. Patients with Fpn mutations A77D or N174I showed macrophage iron loading. In cultured cells, FpnA77D did not reach the cell surface and cells did not export iron...

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Main Authors: De Domenico, Ivana, Ward, Diane McVey, Nemeth, Elizabeta, Ganz, Tomas, Corradini, Elena, Ferrara, Francesca, Musci, Giovanni, Pietrangelo, Antonello, Kaplan, Jerry
Format: Artigo
Language:Inglês
Published: 2006
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3718284/
https://ncbi.nlm.nih.gov/pubmed/16885049
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