A new β<sup>0</sup>‐thalassemia frameshift mutation [β 48 (‐T)] in a Uruguayan family

Luz, Julio Da; López, Pablo; Kimura, Elza; Albuquerque, DM; Costa, FF; Sans, MÃ3nica; Sonati, M.F.

doi:10.1111/j.1751-553x.2012.01462.x

Int J Lab Hematology

2012

DOI: 10.1111/j.1751-553x.2012.01462.x

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

Julio Da Luz

Pablo López

Elza Kimura

et al.

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

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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References 12 publications

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

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.

Cited by 0 publications

References 12 publications

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