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Journal Abstract Search

136 related items for PubMed ID: 15324319

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  • 2. A novel homozygous frameshift deletion c.471del of HFE associated with hemochromatosis.
    Cukjati M, Koren S, Curin Serbec V, Vidan-Jeras B, Rupreht R.
    Clin Genet; 2007 Apr; 71(4):350-3. PubMed ID: 17470136
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  • 3. A previously undescribed nonsense mutation of the HFE gene.
    Beutler E, Griffin MJ, Gelbart T, West C.
    Clin Genet; 2002 Jan; 61(1):40-2. PubMed ID: 11903354
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  • 4. Two novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands.
    Barton JC, Sawada-Hirai R, Rothenberg BE, Acton RT.
    Blood Cells Mol Dis; 1999 Jan; 25(3-4):147-55. PubMed ID: 10575540
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  • 8. Iron overload in HFE C282Y heterozygotes at first genetic testing: a strategy for identifying rare HFE variants.
    Aguilar-Martinez P, Grandchamp B, Cunat S, Cadet E, Blanc F, Nourrit M, Lassoued K, Schved JF, Rochette J.
    Haematologica; 2011 Apr; 96(4):507-14. PubMed ID: 21228038
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  • 9. Prevalence of H63D, S65C and C282Y hereditary hemochromatosis gene mutations in Slovenian population by an improved high-throughput genotyping assay.
    Cukjati M, Vaupotic T, Rupreht R, Curin-Serbec V.
    BMC Med Genet; 2007 Nov 23; 8():69. PubMed ID: 18036208
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  • 10. HFE gene mutations an Apulian population: allele frequencies.
    Pietrapertosa A, Vitucci A, Campanale D, Palma A, Renni R, Delios G, Tannoia N.
    Eur J Epidemiol; 2003 Nov 23; 18(7):685-9. PubMed ID: 12952143
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  • 11. Transferrin receptor-2 gene and non-C282Y homozygous patients with hemochromatosis.
    Aguilar-Martinez P, Esculié-Coste C, Bismuth M, Giansily-Blaizot M, Larrey D, Schved JF.
    Blood Cells Mol Dis; 2001 Nov 23; 27(1):290-3. PubMed ID: 11358390
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  • 13. Differential HFE allele expression in hemochromatosis heterozygotes.
    Rosmorduc O, Poupon R, Nion I, Wendum D, Feder J, Béréziat G, Hermelin B.
    Gastroenterology; 2000 Oct 23; 119(4):1075-86. PubMed ID: 11040194
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  • 16. [Molecular genetic diagnostics and screening of hereditary hemochromatosis].
    Zlocha J, Kovács L, Pozgayová S, Kupcová V, Durínová S.
    Vnitr Lek; 2006 Jun 23; 52(6):602-8. PubMed ID: 16871764
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  • 19. HFE mutations, iron deficiency and overload in 10,500 blood donors.
    Jackson HA, Carter K, Darke C, Guttridge MG, Ravine D, Hutton RD, Napier JA, Worwood M.
    Br J Haematol; 2001 Aug 23; 114(2):474-84. PubMed ID: 11529872
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