Genetics and epidemiology of genetic hemochromatosis;Génétique et épidémiologie des hémochromatoses génétiques

Medecine Therapeutique

Volumn 7, Issue 5, 2001, Pages 346-349

  Deugnier, Y ^a   David, V ^a  

^a PONTCHAILLOU UNIVERSITY HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

DISEASE CLASSIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; HEMOCHROMATOSIS; HOMOZYGOSITY; PREVALENCE; REVIEW;

EID: 0034929533     PISSN: 12646520     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (25)

1. Part III. Jury document
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3. Phenotypic expression of HFE mutations: A French study of 1 110 unrelated iron-overloaded patients and relatives
4. Hemochromatosis gene nomenclature
5. Association of HLA-A3 and HLA-B14 antigens with idiopathic haemochromatosis
6. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
7. A genotypic study of 217 unrelated probands diagnosed as « genetic hemochromatosis » on « classical » phenotypic criteria
8. Mutations in the MHC class I-like candidate gene for hemochromatosis in French patients
9. Heterogeneity of hemochromatosis in Italy
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11. A population-based study of the clinical expression of the hemochromatosis gene
12. The significance of haemochromatosis gene mutations in the general population: Implications for screening
13. The effect of HFE genotypes on measurements of iron overload in patients attending a health appraisal clinic
14. Enquête préalable à la mise en place d'un dépistage systématique de l'hémochromatose génétique dans la population : Étude de 8 663 personnes
15. Clinical features of genetic hemochromatosis in women compared with men
16. Polymorphism in intron 4 of HFE may cause overestimation of C282Y homozygote prevalence in haemochromatosis
17. Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results. The European Haemochromatosis Consortium
18. Polymorphisms in the HFE gene
19. Relation between HFE mutations and mild iron-overload expression
20. Two novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands
21. A novel mutation of HFE explains the classical phenotype of genetic hemochromatosis in a C282Y heterozygote
22. Two novel nonsense mutations of HFE gene in five unrelated italian patients with hemochromatosis
23. Inherited HFE-unrelated hemochromatosis in Italian families
24. The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22
25. Insulin resistance-associated hepatic iron overload