Article
Global prevalence of putative haemochromatosis mutations.
Journal of medical genetics - 1 Apr 1997
Merryweather-Clarke A T, Pointon J J, Shearman J D, Robson K J
Abstract excerpt
Haemochromatosis is a genetic disease associated with progressive iron overload, and is common among populations of northern European origin. HLA-H is a recently reported candidate gene for this condition. Two mutations have been identified, a substitution of cysteine for tyrosine at amino acid 2...
Topics
- Alleles
- Gene Frequency
- HLA Antigens
- Hemochromatosis
- Hemochromatosis Protein
- Histocompatibility Antigens Class I
- Humans
- Membrane Proteins
- Mutation
- Polymorphism, Restriction Fragment Length