Article
Iron-overload and genotypic expression of HFE mutations H63D/C282Y and transferrin receptor Hin6I and BanI polymorphism in german patients with hereditary haemochromatosis.
European journal of immunogenetics : official journal of the British Society for Histocompatibility and Immunogenetics - 1 Jun 2000
Gottschalk R, Seidl C, Schilling S, Braner A, Seifried E, Hoelzer D, Kaltwasser J P
Abstract excerpt
Gene variations of HFE, a HLA-class I like molecule, are highly associated with hereditary haemochromatosis (HH). Functional as well as molecular studies of the HFE protein have indicated that the molecule is involved in iron metabolism and that the HFE gene variations observed among HH patients affect its interaction with the transferrin receptor (TfR). In the present study, we have therefore analysed the...
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