Premium
A new β 0 ‐thalassemia frameshift mutation [β 48 (‐T)] in a Uruguayan family
Author(s) -
Da Luz J.,
López P.,
Kimura E. M.,
Albuquerque D. M.,
Costa F. F.,
Sans M.,
Sonati M. F.
Publication year - 2013
Publication title -
international journal of laboratory hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.705
H-Index - 55
eISSN - 1751-553X
pISSN - 1751-5521
DOI - 10.1111/j.1751-553x.2012.01462.x
Subject(s) - frameshift mutation , thalassemia , mutation , genetics , biology , gene
Summary 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.