Article
Characterization of three novel pathogenic SLC40A1 mutations and genotype/phenotype correlations in 7 Italian families with type 4 hereditary hemochromatosis.
Biochimica et biophysica acta. Molecular basis of disease - 1 Feb 2018
Majore Silvia, Bonaccorsi di Patti Maria Carmela, Valiante Michele, Polticelli Fabio, Cortese Andrea, Di Bartolomeo Sabrina, De Bernardo Carmelilia, De Muro Marianna, Faienza Fiorella, Radio Francesca Clementina, Grammatico Paola, Musci Giovanni
Abstract excerpt
Mutations of SLC40A1 encoding ferroportin (Fpn), the unique cellular iron exporter, severely affect iron homeostasis causing type 4 hereditary hemochromatosis, an autosomal dominant iron overload condition with variable phenotypic manifestations. This disease can be classified as type 4A, better known as "ferroportin disease", which is due to "loss of function" mutations that lead to decreased iron export from...
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