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182 related items for PubMed ID: 19937651

  • 1. 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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  • 5. Analysis of SLC40A1 gene at the mRNA level reveals rapidly the causative mutations in patients with hereditary hemochromatosis type IV.
    Speletas M, Kioumi A, Loules G, Hytiroglou P, Tsitouridis J, Christakis J, Germenis AE.
    Blood Cells Mol Dis; 2008 Mar; 40(3):353-9. PubMed ID: 17997113
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  • 6. A novel mutation in the SLC40A1 gene associated with reduced iron export in vitro.
    Moreno-Carralero MI, Muñoz-Muñoz JA, Cuadrado-Grande N, López-Rodríguez R, José Hernández-Alfaro M, del-Castillo-Rueda A, Enríquez-de-Salamanca R, Méndez M, Morán-Jiménez MJ.
    Am J Hematol; 2014 Jul; 89(7):689-94. PubMed ID: 24644245
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  • 9. Characterization of three novel pathogenic SLC40A1 mutations and genotype/phenotype correlations in 7 Italian families with type 4 hereditary hemochromatosis.
    Majore S, Bonaccorsi di Patti MC, Valiante M, Polticelli F, Cortese A, Di Bartolomeo S, De Bernardo C, De Muro M, Faienza F, Radio FC, Grammatico P, Musci G.
    Biochim Biophys Acta Mol Basis Dis; 2018 Feb; 1864(2):464-470. PubMed ID: 29154924
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  • 14. Structure-function analysis of the human ferroportin iron exporter (SLC40A1): effect of hemochromatosis type 4 disease mutations and identification of critical residues.
    Le Gac G, Ka C, Joubrel R, Gourlaouen I, Lehn P, Mornon JP, Férec C, Callebaut I.
    Hum Mutat; 2013 Oct; 34(10):1371-80. PubMed ID: 23784628
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  • 15. Autosomal dominant hereditary hemochromatosis associated with a novel ferroportin mutation and unique clinical features.
    Sham RL, Phatak PD, West C, Lee P, Andrews C, Beutler E.
    Blood Cells Mol Dis; 2005 Oct; 34(2):157-61. PubMed ID: 15727899
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  • 17. Hepatic iron concentration, fibrosis and response to venesection associated with the A77D and V162del "loss of function" mutations in ferroportin disease.
    Lim FL, Dooley JS, Roques AW, Grellier L, Dhillon AP, Walker AP.
    Blood Cells Mol Dis; 2008 Oct; 40(3):328-33. PubMed ID: 18160317
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  • 18. Phenotypic expression of ferroportin disease in a family with the N144H mutation.
    Rosmorduc O, Wendum D, Arrivé L, Elnaggar A, Ennibi K, Hannoun L, Charlotte F, Grangé JD, Poupon R.
    Gastroenterol Clin Biol; 2008 Mar; 32(3):321-7. PubMed ID: 18403150
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  • 19. Ferroportin disease: a systematic meta-analysis of clinical and molecular findings.
    Mayr R, Janecke AR, Schranz M, Griffiths WJ, Vogel W, Pietrangelo A, Zoller H.
    J Hepatol; 2010 Nov; 53(5):941-9. PubMed ID: 20691492
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  • 20. Novel gain of function mutation in the SLC40A1 gene associated with hereditary haemochromatosis type 4.
    Chen SR, Yang LQ, Chong YT, Jie YS, Wu YK, Yang J, Lin GL, Li XH.
    Intern Med J; 2015 Jun; 45(6):672-6. PubMed ID: 26059880
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