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

Authors :: Da Luz J
López P
Kimura EM
Albuquerque DM
Costa FF
Sans M
Sonati MF
Source :: International journal of laboratory hematology [Int J Lab Hematol] 2013 Feb; Vol. 35 (1), pp. 111-4. Date of Electronic Publication: 2012 Aug 17.
Publication Year :: 2013
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.<br /> (© 2012 Blackwell Publishing Ltd.)