The significance of the 187G (H63D) mutation in hemochromatosis.
Beutler
E
E
D005787:Gene Frequency; D006680:HLA Antigens / Q000235:genetics; D006432:Hemochromatosis / Q000235:genetics*; D000071020:Hemochromatosis Protein; D006579:Heterozygote; D015395:Histocompatibility Antigens Class I / Q000235:genetics; D006720:Homozygote; D006801:Humans; D008565:Membrane Proteins; D017354:Point Mutation / Q000502:physiology*
C103673:HFE protein, human; D006680:HLA Antigens; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins