Article
Phenotypic expression of ferroportin disease in a family with the N144H mutation.
Gastroenterologie clinique et biologique - 1 Mar 2008
Rosmorduc O, Wendum D, Arrivé L, Elnaggar A, Ennibi K, Hannoun L, Charlotte F, Grangé J-D, Poupon R
Abstract excerpt
Ferroportin is a putative transmembrane channel involved in the exit of iron out of the enterocytes, the macrophages and the hepatocytes. Mutations in the human gene coding ferroportin have been linked to an unusual form of iron overload, now referred to as "hemochromatosis type IV" or "ferroportin disease" characterized by a prevalent iron overload of macrophages and liver Küpffer cells. We report four patients...
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