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Zampieri S, Montalvo A, Blanco M, Zanin I, Amartino H, Vlahovicek K, Szlago M, Schenone A, Pittis G, Bembi B, Dardis A. Molecular analysis of HEXA gene in Argentinean patients affected with Tay-Sachs disease: possible common origin of the prevalent c.459+5A>G mutation. Gene 2012;499(2):262-5.\par \par Zampieri S, Buratti E, Dominissini S, Montalvo ALisa, Pittis MGabriela, Bembi B, Dardis A. Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypes. Eur J Hum Genet 2011;19(4):422-31.\par \par }