The HFE Cys282Tyr mutation as a necessary but not sufficient cause of clinical hereditary hemochromatosis.
Beutler
Ernest
E
Department of Molecular and Experimental Medicine, Scripps Research Institute, La Jolla, CA 92037, USA. beutler@scripps.edu
D000328:Adult; D000368:Aged; D019943:Amino Acid Substitution; D002140:California / Q000453:epidemiology; D003062:Codon / Q000235:genetics; D015331:Cohort Studies; D004777:Environment; D004843:Epistasis, Genetic; D005260:Female; D005544:Forecasting; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D005838:Genotype; D006432:Hemochromatosis / Q000453:epidemiology / Q000209:etiology / Q000235:genetics* / Q000503:physiopathology; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics* / Q000502:physiology; D006801:Humans; D007501:Iron / Q000097:blood; D008297:Male; D008565:Membrane Proteins / Q000235:genetics* / Q000502:physiology; D008875:Middle Aged; D020125:Mutation, Missense; D009664:Norway / Q000453:epidemiology; D019683:Penetrance; D017354:Point Mutation; D015995:Prevalence; D014168:Transferrin / Q000032:analysis
D003062:Codon; C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D014168:Transferrin; D007501:Iron