Variation of iron loading expression in C282Y homozygous haemochromatosis probands and sib pairs.
Mura
C
C
Le Gac
G
G
Scotet
V
V
Raguenes
O
O
Mercier
A Y
AY
Férec
C
C
D000328:Adult; D017668:Age of Onset; D000483:Alleles; D004252:DNA Mutational Analysis; D005260:Female; D005293:Ferritins / Q000097:blood; D014644:Genetic Variation / Q000235:genetics*; D006680:HLA Antigens / Q000235:genetics*; D006432:Hemochromatosis / Q000097:blood / Q000235:genetics* / Q000503:physiopathology*; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007501:Iron / Q000097:blood / Q000378:metabolism*; D008297:Male; D016555:Matched-Pair Analysis; D008565:Membrane Proteins; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics*; D009679:Nuclear Family; D010375:Pedigree; D019683:Penetrance; D012044:Regression Analysis; D014168:Transferrin / Q000378:metabolism
C103673:HFE protein, human; D006680:HLA Antigens; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D014168:Transferrin; D005293:Ferritins; D007501:Iron