Presence of the hemochromatosis S65C mutation leads to failure of amplification in a multiplex C282Y/H63D PCR.
Koeken
Ankie
A
de Baar
Ellen
E
Schrauwen
Lianne
L
Cobbaert
Christa
C
D006432:Hemochromatosis / Q000235:genetics*; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000097:blood / Q000235:genetics*; D006801:Humans; D008565:Membrane Proteins / Q000097:blood / Q000235:genetics*; D025202:Molecular Diagnostic Techniques / Q000379:methods; D016297:Mutagenesis, Site-Directed; D009154:Mutation; D016133:Polymerase Chain Reaction / Q000379:methods
C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins