Phenotypic expression of the C282Y/Q283P compound heterozygosity in HFE and molecular modeling of the Q283P mutation effect.
Oberkanins
Christian
C
D005973:Glutamine / Q000235:genetics; D006432:Hemochromatosis / Q000453:epidemiology / Q000235:genetics*; D000071020:Hemochromatosis Protein; D006579:Heterozygote; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008565:Membrane Proteins / Q000235:genetics*; D008958:Models, Molecular; D020125:Mutation, Missense; D010641:Phenotype; D011392:Proline / Q000235:genetics; D013912:Threonine / Q000235:genetics; D014443:Tyrosine / Q000235:genetics
C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D005973:Glutamine; D013912:Threonine; D014443:Tyrosine; D011392:Proline