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  • Title: Multiple mutations produce delta beta 0 thalassemia in Sardinia.
    Author: Pirastu M, Kan YW, Galanello R, Cao A.
    Journal: Science; 1984 Mar 02; 223(4639):929-30. PubMed ID: 6198720.
    Abstract:
    In Sardinia the common form of beta thalassemia is a beta 0 thalassemia due to a nonsense mutation at codon 39. delta beta 0 Thalassemia is rare in Sardinia and is associated with increased production of hemoglobin F of the A gamma type. In this study we used a synthetic oligomer assay and detected the beta 39 nonsense mutation on the delta beta 0 thalassemia chromosome. Hence at least two different mutations have occurred on this chromosome; one that increases A gamma globin synthesis and another that silences the beta globin gene.
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