Prevalence of the G320V mutation of the HJV gene, associated with juvenile hemochromatosis, in Greece.
Mutations of the HJV gene, which maps on chromosome 1q21, underlie most cases of juvenile hemochromatosis. We evaluated the frequency of the most common mutation (G320V) of the HJV gene in the Greek population, since 50% of cases of hereditary hemochromatosis in Greece carry mutations of the HJV gene.
Pissia
Maria
M
Polonifi
Katerina
K
Politou
Marianna
M
Lilakos
Konstantinos
K
Sakellaropoulos
Nikos
N
Papanikolaou
George
G
D002648:Child; D058851:GPI-Linked Proteins; D006115:Greece / Q000453:epidemiology; D006432:Hemochromatosis / Q000235:genetics*; D000071020:Hemochromatosis Protein; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D017720:Molecular Epidemiology; D020125:Mutation, Missense; D015995:Prevalence
D058851:GPI-Linked Proteins; C481006:HJV protein, human; D000071020:Hemochromatosis Protein; D008565:Membrane Proteins