A new β⁰-thalassemia frameshift mutation [β 48 (-T)] in a Uruguayan family.

J Da Luz, P López, E M Kimura, D M Albuquerque, F F Costa, M Sans, M F Sonati

Departamento de Genética, Facultad de Medicina, Universidad de la República, Montevideo, Uruguay. jdal@fmed.edu.uy

International journal of laboratory hematology 2013 Feb

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We describe here a new frameshift mutation of β-thalassemia in a Uruguayan family with Italian ancestry [β48 (-T); HBB:c.146delT]. This frameshift results in formation of premature stop codon (TGA) 40 bp downstream and in a short unstable product that is degraded in the cell. © 2012 Blackwell Publishing Ltd.

Citation

J Da Luz, P López, E M Kimura, D M Albuquerque, F F Costa, M Sans, M F Sonati. A new β⁰-thalassemia frameshift mutation [β 48 (-T)] in a Uruguayan family. International journal of laboratory hematology. 2013 Feb;35(1):111-4