Condition: HEMOCHROMATOSIS, TYPE 2A


rs121434374 in HJV gene and HEMOCHROMATOSIS, TYPE 2A PMID 14647275 2004 Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis.

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

PMID 15461631 2004 Hemojuvelin (HJV) mutations in persons of European, African-American and Asian ancestry with adult onset haemochromatosis.

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

PMID 15610558 2004 Allele frequencies of hemojuvelin gene (HJV) I222N and G320V missense mutations in white and African American subjects from the general Alabama population.

PMID 19796184 2009 Juvenile hemochromatosis due to homozygosity for the G320V mutation in the HJV gene with fatal outcome.

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

PMID 15811010 2005 HJV gene mutations in European patients with juvenile hemochromatosis.