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The Dual Loss and Gain of Function of the FPN1 Iron Exporter Results in the Ferroportin Disease Phenotype

Kevin Uguen,Marlne Le Tertre,Dimitri Tchernitchko,Ahmad Elbahnsi,Sandrine Maestri,Isabelle Gourlaouen,Claude Ferec,Chandran Ka,Isabelle Callebaut,Gerald Le Gac

Human Genetics and Genomics Advances（2024）

Cited 0|Views7
Key words
Ferroportin disease,SLC40A1-related hemochromatosis,MFS transporters,Hepcidin,Pathogenicity of missense variants
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