Article
A novel (Leu183Pro-)mutation in the HFE-gene co-inherited with the Cys282Tyr mutation in two unrelated Dutch hemochromatosis patients.
Blood cells, molecules & diseases - 1 Jan 2000
Swinkels Dorine W, Venselaar Hanka, Wiegerinck Erwin T, Bakker Egbert, Joosten Irma, Jaspers Christian A J J, Vasmel Wies L, Breuning Martijn H
Abstract excerpt
We describe a novel heterozygous mutation in exon 3 of the HFE-gene that was co-inherited with Cys282Tyr in two unrelated Dutch men both presenting a classical form of hereditary hemochromatosis. Heterozygosity for this mutation was also found in one out of 100 healthy controls of Dutch descent. This c.548T>C mutation converts a leucine to a proline residue at position 183 in the alpha2-helix of the HFE-protein...
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