Article
Polymorphisms in the HFE gene.
Human heredity - 1 Jan 1999
Douabin V, Moirand R, Jouanolle A, Brissot P, Le Gall J, Deugnier Y, David V
Abstract excerpt
Hereditary hemochromatosis is an autosomal recessive disease characterized by progressive iron overload. Recently, a candidate gene named HFE was isolated on the short arm of the chromosome 6 within which two mutations were identified: C282Y and H63D. To date, only homozygosity for the C282Y muta...
Topics
- Alleles
- Exons
- Gene Frequency
- Genes, MHC Class I
- HLA Antigens
- Hemochromatosis
- Hemochromatosis Protein
- Histocompatibility Antigens Class I
- Humans
- Introns
- Iron Overload
- Male
- Membrane Proteins
- Mutation
- Polymerase Chain Reaction
- Polymorphism, Genetic
- Syndrome