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Journal Abstract Search

143 related items for PubMed ID: 18160816

  • 1. SLC40A1 c.1402G-->a results in aberrant splicing, ferroportin truncation after glycine 330, and an autosomal dominant hemochromatosis phenotype.
    Lee PL, Gelbart T, West C, Barton JC.
    Acta Haematol; 2007; 118(4):237-41. PubMed ID: 18160816
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  • 2. Two novel mutations in the SLC40A1 and HFE genes implicated in iron overload in a Spanish man.
    Del-Castillo-Rueda A, Moreno-Carralero MI, Alvarez-Sala-Walther LA, Cuadrado-Grande N, Enríquez-de-Salamanca R, Méndez M, Morán-Jiménez MJ.
    Eur J Haematol; 2011 Mar; 86(3):260-4. PubMed ID: 21175851
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  • 3. Hemochromatosis and severe iron overload associated with compound heterozygosity for TFR2 R455Q and two novel mutations TFR2 R396X and G792R.
    Lee PL, Barton JC.
    Acta Haematol; 2006 Mar; 115(1-2):102-5. PubMed ID: 16424658
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  • 8. Splicing analysis of SLC40A1 missense variations and contribution to hemochromatosis type 4 phenotypes.
    Le Tertre M, Ka C, Raud L, Berlivet I, Gourlaouen I, Richard G, Uguen K, Chen JM, Férec C, Fichou Y, Le Gac G.
    Blood Cells Mol Dis; 2021 Mar; 87():102527. PubMed ID: 33341511
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  • 9. Clinical presentation and molecular pathophysiology of autosomal dominant hemochromatosis caused by a novel ferroportin mutation.
    Griffiths WJ, Mayr R, McFarlane I, Hermann M, Halsall DJ, Zoller H, Cox TM.
    Hepatology; 2010 Mar; 51(3):788-95. PubMed ID: 19937651
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  • 15. A novel HFE mutation (c.del478) results in nonsense-mediated decay of the mutant transcript in a hemochromatosis patient.
    Pointon JJ, Lok CY, Shearman JD, Suckling RJ, Rochette J, Merryweather-Clarke AT, Robson KJ.
    Blood Cells Mol Dis; 2009 Mar; 43(2):194-8. PubMed ID: 19477142
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  • 19. Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis.
    Merryweather-Clarke AT, Cadet E, Bomford A, Capron D, Viprakasit V, Miller A, McHugh PJ, Chapman RW, Pointon JJ, Wimhurst VL, Livesey KJ, Tanphaichitr V, Rochette J, Robson KJ.
    Hum Mol Genet; 2003 Sep 01; 12(17):2241-7. PubMed ID: 12915468
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  • 20. 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 Sep 01; 27(1):290-3. PubMed ID: 11358390
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