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

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. These mutati...

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Detalles Bibliográficos
Autores principales: Rawa, Katarzyna, Szczesny, Roman J., Owczarek, Ewelina P., Adamowicz-Salach, Anna, Klukowska, Anna, Demkow, Urszula, Plochocka, Danuta, Szczesny, Pawel, Gora, Monika, Dziembowski, Andrzej, Burzynska, Beata
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5465470/
https://www.ncbi.nlm.nih.gov/pubmed/28595636
http://dx.doi.org/10.1186/s12881-017-0428-1