Article
Clinical and pathologic findings in hemochromatosis type 3 due to a novel mutation in transferrin receptor 2 gene.
Gastroenterology - 1 May 2002
Girelli Domenico, Bozzini Claudia, Roetto Antonella, Alberti Federica, Daraio Filomena, Colombari Romano, Olivieri Oliviero, Corrocher Roberto, Camaschella Clara
Abstract excerpt
BACKGROUND & AIMS: Although most patients with hereditary hemochromatosis are homozygous for a single mutation of the HFE gene on chromosome 6p, accumulating evidence indicates that the disease is genetically heterogeneous. Type 3 hemochromatosis, recently described in 4 families, is linked to mu...
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