The HFE gene S65C polymorphism is rare among Bulgarian porphyria cutanea tarda patients [1]

Journal of Hepatology

Volumn 34, Issue 3, 2001, Pages 484-485

  Von Ahsen, Nicolas ^a   Wieland, Eberhard ^a   Adjarov, Dimtcho ^b   Krastev, Zahari ^b   Oellerich, Michael ^a   Ivanova, Aneta ^b  

^a UNIVERSITY OF GÖTTINGEN   (Germany)

^b UNIVERSITY HOSPITAL ALEXANDROVSKA   (Bulgaria)

Author keywords

[No Author keywords available]

Indexed keywords

COPROPORPHYRIN; PORPHYRIN; UROPORPHYRIN;

BULGARIA; CLINICAL ARTICLE; CONTROLLED STUDY; DNA POLYMORPHISM; GENE MUTATION; GENOTYPE; HUMAN; IRON OVERLOAD; LETTER; PATHOGENESIS; PORPHYRIA CUTANEA TARDA; PRIORITY JOURNAL;

BULGARIA; GENE FREQUENCY; HISTOCOMPATIBILITY ANTIGENS CLASS I; HLA ANTIGENS; HUMANS; MEMBRANE PROTEINS; POLYMORPHISM, GENETIC; PORPHYRIA CUTANEA TARDA;

EID: 0035074418     PISSN: 01688278     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0168-8278(00)00019-2     Document Type: Letter

References (11)

1. Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda
2. Hemochromatosis genes and other factors contributing to the pathogenesis of porphyria cutanea tarda
3. Mutations in the hemochromatosis gene, porphyria cutanea tarda, and iron overload
4. High prevalence of the His63Asp HFE mutation in Italian patients with porphyria cutanea tarda
5. C282Y and H63D mutations in the HFE gene are not associated with porphyria cutanea tarda in Bulgaria
6. Extremely rare association of HFE mutations with porphyria cutanea tarda in Japanese patients
7. HFE mutations analysis in 711 hemochromatosis probands: Evidence for S65C implication in mild form of hemochromatosis
8. HFE S65C variant is not associated with increased transferrin saturation in voluntary blood donors
9. 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
10. Two novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands
11. Application of a thermodynamic nearest-neighbor model to estimate nucleic acid stability and optimize probe design: Prediction of melting points of different mutations of apolipoprotein B 3500 and factor V Leiden with a hybridization probe genotyping assay on the LightCycler