New HJV mutation in a patient with hyperferritinemia and H63D homozygosity for the HFE gene.
de Diego
Carles
C
Opazo
Sonsoles
S
Sánchez-Castaño
Angel
A
Martínez-Castro
Pedro
P
D001483:Base Sequence; D005293:Ferritins / Q000097:blood*; D058851:GPI-Linked Proteins; D000071020:Hemochromatosis Protein; D006639:Histidine / Q000235:genetics / Q000378:metabolism; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*
D058851:GPI-Linked Proteins; C103673:HFE protein, human; C481006:HJV protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D006639:Histidine; D005293:Ferritins