Polymorphisms in the 5′ flanking region of the HFE gene: Linkage disequilibrium and relationship to iron homeostasis

Blood Cells, Molecules, and Diseases

Volumn 28, Issue 2, 2002, Pages 191-195

  Beutler, Ernest ^a   West, Carol ^a  

^a SCRIPPS RESEARCH INSTITUTE   (United States)

Author keywords

Ferritin; Hemochromatosis; Transfusion

Indexed keywords

FERRITIN; HFE PROTEIN; IRON; TRANSFERRIN; HFE PROTEIN, HUMAN; HLA ANTIGEN CLASS 1; MEMBRANE PROTEIN;

ARTICLE; BINDING SITE; CONTROLLED STUDY; DNA FLANKING REGION; FERRITIN BLOOD LEVEL; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENETIC POLYMORPHISM; HOMEOSTASIS; HUMAN; IRON METABOLISM; MAJOR CLINICAL STUDY; MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; START CODON; TRANSFERRIN BLOOD LEVEL; BLOOD; ETHNIC GROUP; GENETIC SCREENING; GENETICS; IRON METABOLISM DISORDER; METABOLISM; MOLECULAR EVOLUTION; POINT MUTATION; SINGLE NUCLEOTIDE POLYMORPHISM;

STAPHYLOCOCCUS PHAGE 187;

5' FLANKING REGION; DNA MUTATIONAL ANALYSIS; ETHNIC GROUPS; EVOLUTION, MOLECULAR; FERRITINS; GENE FREQUENCY; GENETIC SCREENING; HISTOCOMPATIBILITY ANTIGENS CLASS I; HUMANS; IRON METABOLISM DISORDERS; MEMBRANE PROTEINS; POINT MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; TRANSFERRIN;

EID: 0036306764     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1006/bcmd.2002.0509     Document Type: Article

References (15)

1. Mutation analysis in hereditary hemochromatosis
2. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
3. A simple genetic test identifies 90% of UK patients with haemochromatosis
4. HFE gene knockout produces mouse model of hereditary hemochromatosis
5. The C282Y mutation causing hereditary hemochromatosis does not produce a null allele
6. Genetic and clinical description of hemochromatosis probands and heterozygotes: Evidence that multiple genes linked to the major histocompatibility complex are responsible for hemochromatosis
7. Major histocompatibility complex class I associations in iron overload: Evidence for a new link between the HFE H63D mutation, HLA-A29, and non- classical forms of hemochromatosis
8. Low penetrant hemochromatosis phenotype in eight families: No evidence of modifiers in the MHC region
9. New diallelic markers in the HLA region of chromosome 6
10. HLA-H and associated proteins in patients with hemochromatosis
11. The effect of HFE genotypes in patients attending a health appraisal clinic
12. Large-scale screening for HFE mutations: Methodology and cost
13. Cloning, sequencing and characterization of the rat hereditary hemochromatosis promoter: Comparison of the human, mouse and rat HFE promoter regions
14. Hereditary hemochromatosis
15. Hémochromatose idiopathique: Maladie associée à l'antigène tissulaire