Article
Iron overload in Africans and African-Americans and a common mutation in the SCL40A1 (ferroportin 1) gene.
Blood cells, molecules & diseases - 1 Jan 2000
Gordeuk Victor R, Caleffi Angela, Corradini Elena, Ferrara Francesca, Jones Russell A, Castro Oswaldo, Onyekwere Onyinye, Kittles Rick, Pignatti Elisa, Montosi Giuliana, Garuti Cinzia, Gangaidzo Innocent T, Gomo Z A R, Moyo Victor M, Rouault Tracey A, MacPhail Patrick, Pietrangelo Antonello
Abstract excerpt
The product of the SLC40A1 gene, ferroportin 1, is a main iron export protein. Pathogenic mutations in ferroportin 1 lead to an autosomal dominant hereditary iron overload syndrome characterized by high serum ferritin concentration, normal transferrin saturation, iron accumulation predominantly i...
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