Hereditary hemochromatosis

Known as: HH, HEMOCHROMATOSIS, FAMILIAL, HEMOCHROMATOSIS, PRIMARY 
 
National Institutes of Health

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Highly Cited
2005
Highly Cited
2005
Transferrin receptor 2 (TfR2) is a membrane glycoprotein that mediates cellular iron uptake from holotransferrin. Homozygous… (More)
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Highly Cited
2001
Highly Cited
2001
Hereditary hemochromatosis (HH) is a common disorder of iron metabolism caused by mutation in HFE, a gene encoding an MHC class I… (More)
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Highly Cited
1999
Highly Cited
1999
Targeted mutagenesis was used to produce two mutations in the murine hemochromatosis gene (Hfe) locus. The first mutation deletes… (More)
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Highly Cited
1999
Highly Cited
1999
BACKGROUND AND METHODS Hereditary hemochromatosis is associated with homozygosity for the C282Y mutation in the hemochromatosis… (More)
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Highly Cited
1999
Highly Cited
1999
BACKGROUND AND METHODS Hereditary hemochromatosis in adults is usually characterized by mutations in the HFE gene on the short… (More)
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Highly Cited
1999
Highly Cited
1999
Background-The genetic background of hereditary hemochromatosis (HH) is homozygosity for a cysteine-to-tyrosine transition at… (More)
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Highly Cited
1999
Highly Cited
1999
Hereditary hemochromatosis (HH) is a common autosomal recessive genetic disorder of iron metabolism. The HFE candidate gene… (More)
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Highly Cited
1998
Highly Cited
1998
We recently reported the positional cloning of a candidate gene for hereditary hemochromatosis called HFE. The gene product, a… (More)
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Highly Cited
1998
Highly Cited
1998
Hereditary hemochromatosis (HH) is a common autosomal recessive disease characterized by increased iron absorption and… (More)
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Highly Cited
1996
Highly Cited
1996
Hereditary haemochromatosis (HH), which affects some 1 in 400 and has an estimated carrier frequency of 1 in 10 individuals of… (More)
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