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Type: Artigo de periódico
Title: A new beta(0)-thalassemia frameshift mutation [beta 48 (-T)] in a Uruguayan family
Author: Da Luz, J
Lopez, P
Kimura, EM
Albuquerque, DM
Costa, FF
Sans, M
Sonati, MF
Abstract: We describe here a new frameshift mutation of beta-thalassemia in a Uruguayan family with Italian ancestry [beta 48 (-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.
Subject: anemia
Country: EUA
Editor: Wiley-blackwell
Citation: International Journal Of Laboratory Hematology. Wiley-blackwell, v. 35, n. 1, n. 111, n. 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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