Article
Hemochromatosis due to mutations in transferrin receptor 2.
Blood cells, molecules & diseases - 1 Jan 2000
Roetto Antonella, Daraio Filomena, Alberti Federica, Porporato Paolo, Calì Angelita, De Gobbi Marco, Camaschella Clara
Abstract excerpt
A rare recessive disorder which leads to iron overload and severe clinical complications similar to those reported in HFE-related hemochromatosis has been delineated and sometimes called hemochromatosis type 3. The gene responsible is Transferrin Receptor 2 (TFR2), which maps to chromosome 7q22. The TFR2 gene presents a significative homology to transferrin receptor (TFRC) gene, encodes for a transmembrane...
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