Article
Dominant hemochromatosis due to N144H mutation of SLC11A3: clinical and biological characteristics.
Blood cells, molecules & diseases - 1 Jan 2000
Njajou Omer T, de Jong Gerard, Berghuis Bianca, Vaessen Norbert, Snijders Pieter J L M, Goossens Jan P, Wilson John H P, Breuning Martijn H, Oostra Ben A, Heutink Peter, Sandkuijl Lodewijk A, van Duijn Cornelia M
Abstract excerpt
Hereditary hemochromatosis is classically inherited as a recessive trait but is genetically heterogeneous. Mutations in the HFE and the TFR2 genes account for about 80% of patients and a third locus on chromosome 1q is responsible for juvenile hemochromatosis. We describe here the clinical and biological characteristics of autosomal dominant form of iron overload due to the N144H mutation of the SLC11A3 gene....
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