Prevalence of the G320V mutation of the HJV gene, associated with juvenile hemochromatosis, in Greece Mutations of the HJV gene, which maps on chromo-some 1q21, underlie most cases of juvenile hemochro-matosis. We evaluated the frequency of the most com-mon mutation (G320V) of the HJV gene in the Greek population, since 50 % of cases of hereditary hemochro-matosis in Greece carry mutations of the HJV gene.haematologica 2004; 88:742-74
Juvenile haemochromatosis caused by a homozygous Gly320Val mutation in the haemojuvelin (HJV) gene w...
International audienceJuvenile hemochromatosis is a rare autosomal recessive disease due to variants...
Hereditary hemochromatosis is a common inherited disorder of the iron metabolism. Screening studies ...
hemochromatosis caused by a novel combination of hemojuvelin G320V/R176C mutations in a 5-year old g...
A large variety of mutations within the genes encoding hepcidin (HAMP) and hemojuvelin (HJV) have be...
The frequencies of the hereditary hemochromatosis gene (HFE) mutations C282Y and H63D vary between d...
the editor: Homozygosity for a novel nonsense mutation (G66X) of the HJV gene causes severe juvenile...
Juvenile or type 2 hemochromatosis (JH) is transmitted as a recessive trait that leads to severe iro...
Background & Aims: Juvenile hemochromatosis is a severe form of hereditary iron overload that has th...
Background: p.C282Y mutation and rare variants in the HFE gene have been associated with hereditary ...
Background Et Aims. Juvenile hemochromatosis (JH) is a rare autosomal recessive disorder characteriz...
Lessons from a survey of genotyping for hereditary haemochromatosis Hereditary haemochromatosis (HH)...
Background There has been much interest in screening populations for disease-associated mutations. A...
Hereditary haemochromatosis (HH) is the most common autosomal disorder in Caucasians, affecting 1:20...
Juvenile hemochromatosis is a severe form of hereditary iron overload. It can be caused by mutations...
Juvenile haemochromatosis caused by a homozygous Gly320Val mutation in the haemojuvelin (HJV) gene w...
International audienceJuvenile hemochromatosis is a rare autosomal recessive disease due to variants...
Hereditary hemochromatosis is a common inherited disorder of the iron metabolism. Screening studies ...
hemochromatosis caused by a novel combination of hemojuvelin G320V/R176C mutations in a 5-year old g...
A large variety of mutations within the genes encoding hepcidin (HAMP) and hemojuvelin (HJV) have be...
The frequencies of the hereditary hemochromatosis gene (HFE) mutations C282Y and H63D vary between d...
the editor: Homozygosity for a novel nonsense mutation (G66X) of the HJV gene causes severe juvenile...
Juvenile or type 2 hemochromatosis (JH) is transmitted as a recessive trait that leads to severe iro...
Background & Aims: Juvenile hemochromatosis is a severe form of hereditary iron overload that has th...
Background: p.C282Y mutation and rare variants in the HFE gene have been associated with hereditary ...
Background Et Aims. Juvenile hemochromatosis (JH) is a rare autosomal recessive disorder characteriz...
Lessons from a survey of genotyping for hereditary haemochromatosis Hereditary haemochromatosis (HH)...
Background There has been much interest in screening populations for disease-associated mutations. A...
Hereditary haemochromatosis (HH) is the most common autosomal disorder in Caucasians, affecting 1:20...
Juvenile hemochromatosis is a severe form of hereditary iron overload. It can be caused by mutations...
Juvenile haemochromatosis caused by a homozygous Gly320Val mutation in the haemojuvelin (HJV) gene w...
International audienceJuvenile hemochromatosis is a rare autosomal recessive disease due to variants...
Hereditary hemochromatosis is a common inherited disorder of the iron metabolism. Screening studies ...
Add to ORKG