Article
A novel missense mutation in SLC40A1 results in resistance to hepcidin and confirms the existence of two ferroportin-associated iron overload diseases.
British journal of haematology - 1 Nov 2009
Létocart Emilie, Le Gac Gérald, Majore Silvia, Ka Chandran, Radio Francesca C, Gourlaouen Isabelle, De Bernardo Carmelilia, Férec Claude, Grammatico Paola
Abstract excerpt
Ferroportin-related iron overload disease differs from haemochromatosis in that it has a dominant mode of inheritance and is usually associated with macrophage iron sequestration. However, it is thought that mutations with opposite effects on protein functions, i.e. loss-of-function versus gain-of-function mutations, are responsible for variable phenotype presentations. The present study investigated the...
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