Juvenile hemochromatosis due to homozygosity for the G320V mutation in the HJV gene with fatal outcome.
Brakensiek
Kai
K
Fegbeutel
Christine
C
Mälzer
Madeleine
M
Strüber
Martin
M
Kreipe
Hans
H
Stuhrmann
Manfred
M
D000293:Adolescent; D000328:Adult; D017809:Fatal Outcome; D005260:Female; D006432:Hemochromatosis / Q000235:genetics* / Q000473:pathology; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation
C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins