Article
Predominance of the HLA-H Cys282Tyr mutation in Austrian patients with genetic haemochromatosis.
Journal of hepatology - 1 Nov 1997
Datz C, Lalloz M R, Vogel W, Graziadei I, Hackl F, Vautier G, Layton D M, Maier-Dobersberger T, Ferenci P, Penner E, Sandhofer F, Bomford A, Paulweber B
Abstract excerpt
BACKGROUND/AIMS: Genetic haemochromatosis is the most common autosomal recessive disorder in Northern European populations. A major histocompatibility complex class I-like gene, HLA-H, has been proposed to be responsible for genetic haemochromatosis. The prevalence of HLA-H gene mutations 282(TGC...
Topics
- Adult
- Aged
- Female
- Genotype
- HLA Antigens
- Haplotypes
- Hemochromatosis
- Hemochromatosis Protein
- Histocompatibility Antigens Class I
- Humans
- Male
- Membrane Proteins
- Middle Aged
- Mutation
- Pedigree
- Polymerase Chain Reaction