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Type: Artigo de periódico
Title: A New β0-thalassemia Frameshift Mutation [β 48 (-t)] In A Uruguayan Family
Author: Da Luz J.
Lopez P.
Kimura E.M.
Albuquerque D.M.
Costa F.F.
Sans M.
Sonati M.F.
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. © 2012 Blackwell Publishing Ltd.
Citation: International Journal Of Laboratory Hematology. , v. 35, n. 1, p. 111 - 114, 2013.
Rights: fechado
Identifier DOI: 10.1111/j.1751-553X.2012.01462.x
Date Issue: 2013
Appears in Collections:Unicamp - Artigos e Outros Documentos

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