[ferroportin was investigated as a candidate gene in 2 pedigrees with hyperferritinaemia and siderosis in mononuclear phagocytes; A77D mutation was detected in patient 1, his father & brother; V162del mutation was detected in patient 4 ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
Gene-disease associations inferred from text-mining the literature.
DisGeNET evidence - LITERATURE