Condition: Juvenile hemochromatosis


rs74315323 in HJV gene and Juvenile hemochromatosis PMID 14982873 2004 Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis.

PMID 14647275 2004 Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis.

PMID 22408404 2012 The evaluation of the HJV p.Gly320Val mutation must be the molecular test of choice in suspected patients with juvenile hemochromatosis with less than 30 years and cardiac or endocrine manifestations.

PMID 14982867 2004 Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin.

PMID 17339196 2007 Juvenile hemochromatosis caused by a novel combination of hemojuvelin G320V/R176C mutations in a 5-year old girl.