Nonexpressing homozygotes for C282Y hemochromatosis: Minority or majority of cases?

Molecular Genetics and Metabolism

Volumn 71, Issue 1-2, 2000, Pages 81-86

  Adams, Paul C ^a  

^a UNIVERSITY OF WESTERN ONTARIO   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

IRON;

CLINICAL FEATURE; ECONOMIC ASPECT; ENVIRONMENTAL FACTOR; GENE EXPRESSION; GENE MUTATION; GENETIC SCREENING; HEMOCHROMATOSIS; HOMOZYGOTE; HUMAN; IRON BLOOD LEVEL; IRON OVERLOAD; MASS SCREENING; PATHOGENESIS; PEDIGREE; PRIORITY JOURNAL; RISK BENEFIT ANALYSIS; SHORT SURVEY;

EID: 0033808629     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.2000.3037     Document Type: Article

References (29)

1. A novel MHC class I-like gene is mutated in patients with hereditary hemochromatosis
2. Molecular medicine and hemochromatosis: At the crossroads
3. Haemochromatosis and HLA-H
4. Haemochromatosis and HLA-H
5. Genotypic/phenotypic correlations in genetic hemochromatosis: Evolution of diagnostic criteria
6. Expression of HLA-linked hemochromatosis in subjects homozygous or heterozygous for the C282Y mutation
7. Polymorphism in intron 4 of HFE may cause overestimation of C282Y homozygote prevalence in haemochromatosis
8. The relationship between iron overload, clinical symptoms and age in 410 patients with genetic hemochromatosis
9. A survey of 2,851 patients with hemochromatosis: Symptoms and response to treatment
10. Haemochromatosis gene C282Y homozygotes in an elderly male population
11. Association of HLA-A3 and HLA-B14 antigens with idiopathic haemochromatosis
12. Characterization of a recombinant that locates the hereditary hemochromatosis gene telomeric to HLA-F
13. Clinical and family studies in genetic hemochromatosis: Microsatellite and HFE studies in five atypical families
14. Homozygosity for the predominant Cys282Tyr mutation and absence of disease expression in hereditary haemochromatosis
15. Population screening for hemochromatosis: A comparison of unbound iron binding capacity, transferrin saturation and C282Y genotyping in 5,211 voluntary blood donors
16. A population-based study of the clinical expression of the hemochromatosis gene
17. The significance of haemochromatosis gene mutations in the general population: Implications for screening
18. Preliminary studies before systematic screening of hemochromatosis: Prevalence and penetrance of C282Y homozygosity
19. Population screening for haemochromatosis
20. Clinical course of non-expressing C282Y homozygotes for hemochromatosis
21. Evidence for heterogeneity in hereditary hemochromatosis. Evaluation of 174 persons in nine families
22. The structure and function of HFE
23. Phenotypes of patients with 'simple' Mendelian disorders are complex traits: Thresholds, modifiers, and system dynamics
24. Of metals, mice, and men: What animal models can teach us about body iron loading
25. Genes that modify the hemochromatosis phenotype in mice
26. Screening blood donors for hereditary hemochromatosis: Decision analysis model comparing genotyping to phenotyping
27. Psychosocial impact of genetic screening for hemochromatosis in population screening and referred patients
28. Laws restricting health insurer's use of genetic information: Impact on genetic discrimination
29. Population-based screening for hemochromatosis using phenotypic and DNA testing among employees of health maintenance organizations in Springfield, Missouri