Article
Phenotype-genotype correlation in haemochromatosis subjects.
Human genetics - 1 Dec 1997
Mura C, Nousbaum J B, Verger P, Moalic M T, Raguenes O, Mercier A Y, Ferec C
Abstract excerpt
Haemochromatosis is a common autosomal recessive genetic disorder of iron metabolism. A candidate gene was recently identified (HLA-H) and two amino acid substitutions (C282Y and H63D) were characterized. Haemochromatosis probands (n = 478) from Brittany were selected from their iron status marke...
Topics
- Female
- Ferritins
- Gene Frequency
- Genetic Heterogeneity
- Genotype
- HLA Antigens
- Hemochromatosis
- Hemochromatosis Protein
- Histocompatibility Antigens Class I
- Humans
- Iron
- Male
- Membrane Proteins
- Mutation
- Phenotype