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A novel frameshift mutation (+A) at codon 18 of the beta-globin gene associated with high persistence of fetal hemoglobin phenotype and deltabeta-thalassemia.
Feriotto G, Salvatori F, Finotti A, Breveglieri G, Venturi M, Zuccato C, Bianchi N, Borgatti M, Lampronti I, Mancini I, Massei F, Favre C, Gambari R. Feriotto G, et al. Among authors: zuccato c. Acta Haematol. 2008;119(1):28-37. doi: 10.1159/000114204. Epub 2008 Jan 30. Acta Haematol. 2008. PMID: 18230963
Development of K562 cell clones expressing beta-globin mRNA carrying the beta039 thalassaemia mutation for the screening of correctors of stop-codon mutations.
Salvatori F, Cantale V, Breveglieri G, Zuccato C, Finotti A, Bianchi N, Borgatti M, Feriotto G, Destro F, Canella A, Breda L, Rivella S, Gambari R. Salvatori F, et al. Among authors: zuccato c. Biotechnol Appl Biochem. 2009 Jul 9;54(1):41-52. doi: 10.1042/BA20080266. Biotechnol Appl Biochem. 2009. PMID: 19216718 Free PMC article.
127 results