Suggestions

Du même auteur

Sex and acquired cofactors determine phenotypes of ferroportin disease.

Archive ouverte | Le Lan, Caroline | CCSD

International audience. BACKGROUND & AIMS: Ferroportin disease is characterized by iron overload. It has an autosomal-dominant pattern of inheritance and has been associated with mutations in the SLC40A1 gene, which...

Ferroportin diseases: functional studies, a link between genetic and clinical phenotype.

Archive ouverte | Détivaud, Lénaïck | CCSD

International audience. Ferroportin (FPN) mediates iron export from cells and this function is modulated by serum hepcidin. Mutations in the FPN gene (SLC40A1) lead to autosomal dominant iron overload diseases relat...

Molecular diagnosis of genetic iron-overload disorders.

Archive ouverte | Brissot, Pierre | CCSD

International audience. Genetic iron overload has long been confined to the picture of classical hemochromatosis related to the HFE C282Y mutation (type 1 hemochromatosis). C282Y homozygosity affects approximately t...

Chargement des enrichissements...