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

Dipartimento di Scienze Microbiologiche Genetiche e Molecolari, Universita di Messina, 98166 Messina, Italia. 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 show...

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Veröffentlicht in:	Haematologica (Roma) 2006-08, Vol.91 (8), p.1092-1095
Hauptverfasser:	De Domenico, I, McVey Ward, D, Nemeth, E, Ganz, T, Corradini, E, Ferrara, F, Musci, G, Pietrangelo, A, Kaplan, J
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Substitution Biological and medical sciences Cation Transport Proteins - genetics Cloning, Molecular Hematologic and hematopoietic diseases Humans Iron Overload - genetics Iron Overload - therapy Medical sciences Metabolic diseases Metals (hemochromatosis...) Mutation Other metabolic disorders
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