Article
High prevalence of non-HFE gene-associated haemochromatosis in patients from southern Italy.
Clinical chemistry and laboratory medicine - 1 Jan 2004
De Marco Francesco, Liguori Rosario, Giardina Maria Grazia, D'Armiento Maria, Angelucci Emanuele, Lucariello Antonio, Morante Roberto, Cimino Lucia, Galeota-Lanza Alfonso, Tarantino Giovanni, Ascione Antonio, Budillon Gabriele, Vecchione Raffaela, Martinelli Rosanna, Matarazzo Margherita, De Simone Vincenzo
Abstract excerpt
Hereditary haemochromatosis is an autosomal recessive disorder of iron regulation that results in abnormal intestinal iron absorption with progressive iron overloading of parenchymal cells. Two specific, single point mutations of the HFE gene (C282Y and H63D) have been described in haemochromatos...
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