. . . . . . . "[novel heterozygous mutation in exon 3 of the HFE-gene that was co-inherited with Cys282Tyr in 2 unrelated Dutch men with hereditary hemochromatosis; the c.548T > C mutation converts a leucine to a proline residue at position 183 in the alpha2-helix of HFE]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2009-03-31"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2017-10-17T13:13:15+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .