Two novel C-terminal frameshift mutations in the β-globin gene lead to rapid mRNA decay

Two novel C-terminal frameshift mutations in the β-globin gene lead to rapid mRNA decay

Abstract Background The thalassemia syndromes are classified according to the globin chain or chains whose production is affected. β-thalassemias are caused by point mutations or, more rarely, deletions or insertions of a few nucleotides in the β-globin gene or its immediate flanking sequences. Thes...

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Bibliographic Details
Main Authors: Katarzyna Rawa, Roman J. Szczesny, Ewelina P. Owczarek, Anna Adamowicz-Salach, Anna Klukowska, Urszula Demkow, Danuta Plochocka, Pawel Szczesny, Monika Gora, Andrzej Dziembowski, Beata Burzynska
Format: Article
Language:English
Published: BMC 2017-06-01
Series:BMC Medical Genetics
Subjects:
β- thalassemia
Frameshift mutations
Gene expression
mRNA degradation
Online Access:http://link.springer.com/article/10.1186/s12881-017-0428-1

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http://link.springer.com/article/10.1186/s12881-017-0428-1

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