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A new mutation (G51C) in the iron-responsive element (IRE) of L-ferritin associated with hyperferritinaemia-cataract syndrome decreases the binding affinity of the mutated IRE for iron-regulatory proteins.
Camaschella C, Zecchina G, Lockitch G, Roetto A, Campanella A, Arosio P, Levi S. Camaschella C, et al. Among authors: zecchina g. Br J Haematol. 2000 Mar;108(3):480-2. doi: 10.1046/j.1365-2141.2000.01920.x. Br J Haematol. 2000. PMID: 10759702 Free article.
Pathogenesis of hyperferritinemia cataract syndrome.
Roetto A, Bosio S, Gramaglia E, Barilaro MR, Zecchina G, Camaschella C. Roetto A, et al. Among authors: zecchina g. Blood Cells Mol Dis. 2002 Nov-Dec;29(3):532-5. doi: 10.1006/bcmd.2002.0590. Blood Cells Mol Dis. 2002. PMID: 12547247
Two novel mutations in the tmprss6 gene associated with iron-refractory iron-deficiency anaemia (irida) and partial expression in the heterozygous form.
Pellegrino RM, Coutinho M, D'Ascola D, Lopes AM, Palmieri A, Carnuccio F, Costa M, Zecchina G, Saglio G, Costa E, Barbot J, Porto G, Pinto JP, Roetto A. Pellegrino RM, et al. Among authors: zecchina g. Br J Haematol. 2012 Sep;158(5):668-72. doi: 10.1111/j.1365-2141.2012.09198.x. Epub 2012 Jul 5. Br J Haematol. 2012. PMID: 22765023 Free article. No abstract available.
New TFR2 mutations in young Italian patients with hemochromatosis.
Biasiotto G, Camaschella C, Forni GL, Polotti A, Zecchina G, Arosio P. Biasiotto G, et al. Among authors: zecchina g. Haematologica. 2008 Feb;93(2):309-10. doi: 10.3324/haematol.11942. Haematologica. 2008. PMID: 18245657 Free article.
17 results