Article
A candidate gene for hemochromatosis: frequency of the C282Y and H63D mutations.
Human genetics - 1 Oct 1997
Jouanolle A M, Fergelot P, Gandon G, Yaouanq J, Le Gall J Y, David V
Abstract excerpt
The gene whose alteration causes hereditary hemochromatosis (HFE according to the international nomenclature) was, more than 20 years ago, shown to map to 6p21.3. It has since escaped all efforts to identify it by positional cloning strategies. Quite recently, a gene named HLA-H was reported as b...
Topics
- Chromosomes, Human, Pair 6
- France
- Gene Frequency
- Genes, MHC Class I
- HLA Antigens
- Haplotypes
- Hemochromatosis
- Hemochromatosis Protein
- Heterozygote
- Histocompatibility Antigens Class I
- Homozygote
- Humans
- Membrane Proteins
- Mutation