Homozygosity for a novel nonsense mutation (G66X) of the HJV gene causes severe juvenile hemochromatosis with fatal cardiomyopathy.
Jánosi
András
A
Andrikovics
Hajnalka
H
Vas
Katalin
K
Bors
András
A
Hubay
Márta
M
Sápi
Zoltán
Z
Tordai
Attila
A
D000328:Adult; D017668:Age of Onset; D009202:Cardiomyopathies / Q000150:complications* / Q000235:genetics; D018389:Codon, Nonsense / Q000235:genetics*; D005260:Female; D058851:GPI-Linked Proteins; D005998:Glycine / Q000235:genetics; D006432:Hemochromatosis / Q000150:complications* / Q000235:genetics*; D000071020:Hemochromatosis Protein; D006720:Homozygote; D006801:Humans; D007501:Iron / Q000378:metabolism; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged
D018389:Codon, Nonsense; D058851:GPI-Linked Proteins; C481006:HJV protein, human; D000071020:Hemochromatosis Protein; D008565:Membrane Proteins; D007501:Iron; D005998:Glycine