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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

A new beta(0)-thalassemia frameshift mutation [beta 48 (-T)] in a Uruguayan family

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Author(s):
Da Luz, J. [1] ; Lopez, P. [1] ; Kimura, E. M. [2] ; Albuquerque, D. M. [3] ; Costa, F. F. [3] ; Sans, M. [4] ; Sonati, M. F. [2]
Total Authors: 7
Affiliation:
[1] Univ Republica, Dept Genet, Fac Med, Montevideo 11800 - Uruguay
[2] Univ Estadual Campinas, Dept Patol Clin, Fac Ciencias Med, Sao Paulo - Brazil
[3] Univ Estadual Campinas, Hemoctr, Fac Ciencias Med, Sao Paulo - Brazil
[4] Univ Republica, Dept Antropol Biol, Fac Humanidades & Ciencias Educ, Montevideo - Uruguay
Total Affiliations: 4
Document type: Journal article
Source: INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY; v. 35, n. 1, p. 111-114, FEB 2013.
Web of Science Citations: 0
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. (AU)

FAPESP's process: 08/57441-0 - Clinical, cellular and molecular alterations in hemoglobinopathies and other hereditary hemolytic anemias
Grantee:Fernando Ferreira Costa
Support type: Research Projects - Thematic Grants