The dual loss and gain of function of the FPN1 iron exporter results in the ferroportin disease phenotype

Authors: Kevin Uguen, Marlène Le Tertre, Dimitri Tchernitchko, Ahmad Elbahnsi, Sandrine Maestri, Isabelle Gourlaouen, Claude Férec, Chandran Ka, Isabelle Callebaut, Gérald Le Gac

Source: HGG Advances, Vol 5, Iss 4, Pp 100335- (2024)

Subject Terms: Ferroportin disease, SLC40A1-related hemochromatosis, MFS transporters, Hepcidin, Pathogenicity of missense variants, Genetics, QH426-470

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247724000757; https://doaj.org/toc/2666-2477

Access URL: https://doaj.org/article/628bcda8ead241819061e4af36cf09ea