Hereditary hemochromatosis: The clinical significance of the S65C mutation

Genetic Testing

Volumn 6, Issue 1, 2002, Pages 59-62

  Åsberg, Arne ^a   Thorstensen, Ketil ^a   Hveem, Kristian ^a   Bjerve, Kristian S ^a  

^a TRONDHEIM UNIVERSITY HOSPITAL   (Norway)

Author keywords

[No Author keywords available]

Indexed keywords

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

ADULT; ARTICLE; FEMALE; FERRITIN BLOOD LEVEL; GENE MUTATION; GENOTYPE; HEMOCHROMATOSIS; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; IRON OVERLOAD; LIVER; MAJOR CLINICAL STUDY; MALE; MASS SCREENING; PHENOTYPE; AMINO ACID SUBSTITUTION; BLOOD; GENETICS; MISSENSE MUTATION;

AMINO ACID SUBSTITUTION; FEMALE; FERRITIN; HEMOCHROMATOSIS; HISTOCOMPATIBILITY ANTIGENS CLASS I; HUMAN; MALE; MEMBRANE PROTEINS; MUTATION, MISSENSE; FERRITINS; HUMANS;

EID: 0036016994     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/109065702760093933     Document Type: Article

References (11)

1. EASL International Consensus Conference on Haemochromatosis
2. HFE S65C variant is not associated with increased transferrin saturation in voluntary blood donors
3. Screening for hemochromatosis-high prevalence and low morbidity in an unselected population of 65238 persons
4. Commentary on HFE S65C variant is not associated with increased transferrin saturation in voluntary blood donors by Naveen Arya, Subrata Chakrabrati, Robert A. Hegele, Paul C. Adams
5. The effect of HFE genotypes on measurements of iron overload in patients attending a health appraisal clinic
6. HFE mutations in patients with hereditary haemochromatosis in Sweden
7. High prevalence of the hemochromatosis-associated Cys282Tyr HFE gene mutation in a healthy Norwegian population in the city of Oslo, and its phenotypic expression
8. HFE genotypes and haemochromatosis: Quantifying the risks of disease
9. HFE mutations analysis in 711 hemochromatosis probands: Evidence for S65C implication in mild form of hemochromatosis
10. Detection of an unusual combination of mutations in the HFE gene for hemochromatosis