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A new β⁰-thalassemia frameshift mutation [β 48 (-T)] in a Uruguayan family
J Da Luz1, P López, E M Kimura
1Departamento de Genética, Facultad de Medicina, Universidad de la República, Montevideo, Uruguay. jdal@fmed.edu.uy
International Journal of Laboratory Hematology
|August 18, 2012
Abstract:
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.
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