Penetrance of 845G → A (C282Y) HFE hereditary haemochromatosis mutation in the USA

Lancet

Volumn 359, Issue 9302, 2002, Pages 211-218

  Beutler, Ernest ^a   Felitti, Vincent J ^b   Koziol, James A ^a   Ho, Ngoc J ^a   Gelbart, Terri ^a  

^a SCRIPPS RESEARCH INSTITUTE   (United States)

^b KAISER PERMANENTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARTATE AMINOTRANSFERASE; COLLAGEN TYPE 4; COLLAGEN; FERRITIN; TRANSFERRIN;

ADULT; AGE; AGING; ARTHROPATHY; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; CLINICAL FEATURE; CONFERENCE PAPER; CONTROLLED STUDY; DIABETES MELLITUS; DISEASE ASSOCIATION; FEMALE; GENE MUTATION; GENETIC DISORDER; GENOTYPE; HEALTH CENTER; HEALTH STATUS; HEART ARRHYTHMIA; HEMOCHROMATOSIS; HEPATITIS; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; IMPOTENCE; MAJOR CLINICAL STUDY; MALE; MASS SCREENING; POPULATION; PREVALENCE; PRIORITY JOURNAL; SKIN PIGMENTATION; UNITED STATES; ARTICLE; BLOOD; GENETICS; HETEROZYGOTE; HOMOZYGOTE; MUTATION;

ADULT; COLLAGEN; FEMALE; FERRITINS; GENOTYPE; HEMOCHROMATOSIS; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MALE; MUTATION; TRANSFERRIN; UNITED STATES;

EID: 0037132786     PISSN: 01406736     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0140-6736(02)07447-0     Document Type: Conference Paper

References (33)

1. Tay-Sachs screening in the Jewish Ashkenazi population: DNA testing is the preferred procedure
2. BRCA1 and BRCA2 gene mutations: Decision-making dilemmas concerning testing and management
3. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
4. Mutation analysis in hereditary hemochromatosis
5. Haemochromatosis and HLA-H
6. Haemochromatosis and HLA-H
7. The significance of the 187G (H63D) mutation in hemochromatosis
8. H63D is an haemochromatosis associated allele
9. Hemochromatosis: The genetic disorder of the twenty-first century
10. HFE genotyping using multiplex allele-specific polymerase chain reaction and capillary electrophoresis
11. Screening for hemochromatosis in children of homozygotes: Prevalence and cost-effectiveness
12. Population screening for HFE-associated haemochromatosis: Should we have to pay for our genes?
13. Nonexpressing homozygotes for C282Y hemochromatosis: Minority or majority of cases?
14. Large-scale screening for HFE mutations: Methodology and cost
15. Elevated serum type IV collagen: A sensitive indicator of the presence of cirrhosis in haemochromatosis
16. Probability plotting methods for the analysis of data
17. The effect of HFE genotypes in patients attending a health appraisal clinic
18. Hereditary hemochromatosis
19. EASL International Consensus Conference on Haemochromatosis, II: Expert document
20. A survey of 2,851 patients with hemochromatosis: Symptoms and response to treatment
21. Screening for hemochromatosis: Phenotype versus genotype
22. Population screening for haemochromatosis: A unifying analysis of published intervention trials
23. A population-based study of the clinical expression of the hemochromatosis gene
24. Disease-related conditions in relatives of patients with hemochromatosis
25. Haemochromatosis gene C282Y homozygotes in an elderly male population
26. Incidence of liver disease in people with HFE mutations
27. Noninvasive prediction of fibrosis in C282Y homozygous hemochromatosis
28. Regional differences in the idiopathic hemochromatosis gene frequency in Sweden
29. Hemochromatosis-associated mortality in the United States from to 1992: An analysis of Multiple-Cause Mortality Data
30. Discrepancies between genotype and phenotype in hematology: An important frontier
31. Sickle cell anaemia in a septuagenarian
32. Gaucher disease: New molecular approaches to diagnosis and treatment