Uncommon mutations and polymorphisms in the hemochromatosis gene.

Journal article

Hereditary hemochromatosis (HH) is a common autosomal recessive disorder of iron metabolism. Iron absorption from the gut is inappropriately high, resulting in increasing iron overload. The hemochromatosis gene (HFE) was identified in 1996 by extensive positional cloning by many groups over a period of about 20 years. Two missense mutations were identified. Homozygosity for one of these, a substitution of a tyrosine for a conserved cysteine (C282Y), has now clearly been shown to be associated...

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Authors: Pointon, J; Wallace, D; Merryweather-Clarke, A; Robson, K

• Publication status: Published
• Journal: Genetic testing
• Volume: 4
• Issue: 2
• Pages: 151-161
• Publication date: 2000-01-01
• DOI: 10.1089/10906570050114867
• EISSN: 1557-7473
• ISSN: 1090-6576
• Language: English
• Keywords: Hemochromatosis; HLA Antigens; Membrane Proteins; Polymorphism, Genetic; Mutation; Heterozygote; Humans; Histocompatibility Antigens Class I; Amino Acid Substitution; Introns; Exons; Homozygote