The S65C mutation in Spain. Implications for iron overload screening

Haematologica

Volumn 85, Issue 12, 2000, Pages 1324-1325

  Remacha, A F ^a   Barcelo M J ^a   Sarda M P ^a   Blesa, I ^a   Altes A ^a   Baiget, M ^a  

^a HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

Author keywords

Hereditary hemochromatosis; HFE; Iron; S65C

Indexed keywords

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; GENE MUTATION; HEMOCHROMATOSIS; HETEROZYGOSITY; HUMAN; IRON OVERLOAD; SPAIN;

CASE-CONTROL STUDIES; GENETIC SCREENING; HEMOCHROMATOSIS; HISTOCOMPATIBILITY ANTIGENS CLASS I; HLA ANTIGENS; HUMANS; IRON OVERLOAD; MEMBRANE PROTEINS; POINT MUTATION; SPAIN;

EID: 0034516865     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (10)

1. Molecular genetics and control of iron metabolism in hemochromatosis
2. A novel MHC class I-like gene is mutated in patients with hereditary hemochromatosis
3. Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria
4. HFE mutations analysis in 711 hemochromatosis probands: Evidence for S65C implication in mild form of hemochromatosis
5. Two novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands
6. Compound heterozygotes for hemochormatosis gene mutations: May they help to understand the pathophysiology of the disease?
7. HFE mutation analysis in patients with hepatitis C virus with positive screening for iron overload
8. Frequency of the HFE C282Y and H63D mutations in distinct ethnic groups living in Spain
9. Prevalence of the Cys282Tyr and His63Asp HFE gene mutations in Spanish patients with hereditary hemochromatosis and in controls
10. Crystal structure of the hereditary haemochromatosis protein HFE complexed with transferrin receptor