A new β0‐thalassemia frameshift mutation [β 48 (‐T)] in a Uruguayan family. Issue 1 (17th August 2012)

• Record Type: Journal Article
• Authors: Da Luz, J.; López, P.; Kimura, E. M.; Albuquerque, D. M.; Costa, F. F.; Sans, M.; Sonati, M. F.
• Is Part Of: International journal of laboratory hematology. Volume 35:Issue 1(2013:Feb.)
• Page Start: 111
• Page End: 114
• Publication Date: 2012-08-17
• Subjects: Hematology -- Periodicals; Blood -- Diseases -- Periodicals; Hematology -- Periodicals; 616.15005
• DOI: 10.1111/j.1751-553X.2012.01462.x
• Languages: English
• ISSNs: 1751-5521

Abstract

<abstract abstract-type="main" id="ijlh1454-abs-0001"> <title>Summary</title> <p>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.</p> </abstract>