Article
Mutation analysis of the HLA-H gene in French hemochromatosis patients, and genetic counseling in families.
Genetic counseling (Geneva, Switzerland) - 1 Jan 1998
Mercier G, Burckel A, Bathelier C, Boillat E, Lucotte G
Abstract excerpt
Mutation analysis of the HLA-H gene in French hemochromatosis patients and genetic counseling in families: Genotype analysis of 61 hemochromatosis patients living in France and 126 controls confirms that the disease is strongly associated with homozygosity for the mutation C282Y of the HLA-H gene...
Topics
- Amino Acid Substitution
- DNA Mutational Analysis
- Family
- Female
- France
- Gene Frequency
- Genes, MHC Class I
- Genetic Counseling
- Genotype
- HLA Antigens
- Hemochromatosis
- Hemochromatosis Protein
- Histocompatibility Antigens Class I
- Humans
- Male
- Membrane Proteins
- Pedigree
- Point Mutation