Albertine Donker
Chapter 3 134 existence of two ferroportin-associated iron overload diseases. Br J Haematol. 2009;147(3):379-385. 20. Mougiou A, Pietrangelo A, Caleffi A, Kourakli A, Karakantza M, Zoumbos N. G80S- linked ferroportin disease: the first clinical description in a Greek family. Blood Cells Mol Dis. 2008;41(1):138-139. 21. Cunat S, Giansily-Blaizot M, Bismuth M, et al. Global sequencing approach for characterizing the molecular background of hereditary iron disorders. Clin Chem. 2007;53(12):2060-2069. 22. Saja K, Bignell P, Robson K, Provan D. A novel missense mutation c.470 A>C (p.D157A) in the SLC40A1 gene as a cause of ferroportin disease in a family with hyperferritinaemia. Br J Haematol. 2010;149(6):914-916. 23. Wallace DF, Browett P, Wong P, Kua H, Ameratunga R, Subramaniam VN. Identification of ferroportin disease in the Indian subcontinent. Gut . 2005;54(4):567- 568. 24. Devalia V, Carter K, Walker AP, et al. Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene (SLC11A3). Blood . 2002;100(2):695-697. 25. Morris TJ, Litvinova MM, Ralston D, Mattman A, Holmes D, Lockitch G. A novel ferroportin mutation in a Canadian family with autosomal dominant hemochromatosis. Blood. Cells Mol Dis 2005;35(3):309-314. 26. Girelli D, De Domenico I, Bozzini C, et al. Clinical, pathological, and molecular correlates in ferroportin disease: a study of two novel mutations. J Hepatol. 2008;49(4):664-671. 27. Wallace DF, Dixon JL, Ramm GA, Anderson GJ, Powell LW, Subramaniam VN. A novel mutation in ferroportin implicated in iron overload. J Hepatol. 2007;46(5):921-926. 28. Griffiths WJ, Mayr R, McFarlane I, et al. Clinical presentation and molecular pathophysiology of autosomal dominant hemochromatosis caused by a novel ferroportin mutation. Hepatology. 2010;51(3):788-795. 29. Wallace DF, Pedersen P, Dixon JL, et al. Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis. Blood. 2002;100(2):692-694. 30. Rivard SR, Lanzara C, Grimard D, et al. Autosomal dominant reticuloendothelial iron overload (HFE type 4) due to a new missense mutation in the FERROPORTIN 1 gene (SLC11A3) in a large French-Canadian family. Haematologica. 2003;88(7):824-826. 31. Bach V, Remacha A, Altes A, Barcelo MJ, Molina MA, Baiget M. Autosomal dominant hereditary hemochromatosis associated with two novel Ferroportin 1 mutations in Spain. Blood Cells Mol Dis. 2006;36(1):41-45. 32. Njajou OT, Vaessen N, Joosse M, et al. A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis. Nat Genet. 2001;28(3):213-214. 33. Njajou OT, de Jong G, Berghuis B, et al. Dominant hemochromatosis due to N144H mutation of SLC11A3: clinical and biological characteristics. Blood Cells Mol Dis . 2002;29(3):439-443. 34. Rosmorduc O, Wendum D, Arrive L, et al. Phenotypic expression of ferroportin disease in a family with the N144H mutation. Gastroenterol Clin Biol. 2008;32(3):321-327. 35. Wallace DF, Clark RM, Harley HA, Subramaniam VN. Autosomal dominant iron overload due to a novel mutation of ferroportin1 associated with parenchymal iron loading and cirrhosis. J Hepatol. 2004;40(4):710-713. 36. Speletas M, Kioumi A, Loules G, et al. Analysis of SLC40A1 gene at the mRNA level reveals rapidly the causative mutations in patients with hereditary hemochromatosis type IV. Blood Cells Mol Dis. 2008;40(3):353-359. 37. Cremonesi L, Forni GL, Soriani N, et al. Genetic and clinical heterogeneity of ferroportin disease. Br J Haematol. 2005;131(5):663-670. 38. Del-Castillo-Rueda A, Moreno-Carralero MI, Alvarez-Sala-Walther LA, et al. Two novel mutations in the SLC40A1 and HFE genes
Made with FlippingBook
RkJQdWJsaXNoZXIy ODAyMDc0