Ferroportin mutation in autosomal dominant hemochromatosis: loss of function, gain in understanding.
Fleming
R E
RE
Department of Pediatrics, Saint Louis University School of Medicine, St. Louis, Missouri 63104, USA. flemingr@slu.edu
Sly
W S
WS
D019943:Amino Acid Substitution; D000818:Animals; D002352:Carrier Proteins / Q000235:genetics* / Q000502:physiology; D027682:Cation Transport Proteins; D002570:Ceruloplasmin / Q000172:deficiency / Q000235:genetics; D005799:Genes, Dominant; D018740:Genetic Heterogeneity; D006680:HLA Antigens / Q000235:genetics / Q000378:metabolism; D006432:Hemochromatosis / Q000235:genetics*; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics / Q000378:metabolism; D006706:Homeostasis; D006801:Humans; D007501:Iron / Q000378:metabolism; D019190:Iron Overload / Q000235:genetics / Q000378:metabolism; D008565:Membrane Proteins / Q000172:deficiency / Q000235:genetics* / Q000502:physiology; D051379:Mice; D018345:Mice, Knockout; D012157:Mononuclear Phagocyte System / Q000378:metabolism; D020125:Mutation, Missense; D015027:Zebrafish / Q000196:embryology / Q000235:genetics / Q000378:metabolism; D000098742:Ferroportin
D002352:Carrier Proteins; D027682:Cation Transport Proteins; C103673:HFE protein, human; D006680:HLA Antigens; D000071020:Hemochromatosis Protein; C499535:Hfe protein, mouse; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D000098742:Ferroportin; D007501:Iron; D002570:Ceruloplasmin