Article
Phenotypic expression of HFE mutations: a French study of 1110 unrelated iron-overloaded patients and relatives.
Gastroenterology - 1 Feb 1999
Moirand R, Jouanolle A M, Brissot P, Le Gall J Y, David V, Deugnier Y
Abstract excerpt
BACKGROUND & AIMS: Two mutations have been described in the HFE gene: C282Y and H63D. The aim of this study was to determine the phenotype of the different HFE genotypes. METHODS: Clinical symptoms and iron data were examined according to HFE genotypes in 531 unrelated patients with unexplained l...
Topics
- Case-Control Studies
- Female
- Ferritins
- France
- Gene Expression Regulation
- Genotype
- HLA Antigens
- Hemochromatosis
- Hemochromatosis Protein
- Histocompatibility Antigens Class I
- Humans
- Iron
- Iron Overload
- Liver
- Male
- Mass Screening
- Membrane Proteins
- Mutation