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5′UTR Variants of Ribosomal Protein S19 Transcript Determine Translational Efficiency: Implications for Diamond-Blackfan Anemia and Tissue Variability

BACKGROUND: Diamond-Blackfan anemia (DBA) is a lineage specific and congenital erythroblastopenia. The disease is associated with mutations in genes encoding ribosomal proteins resulting in perturbed ribosomal subunit biosynthesis. The RPS19 gene is mutated in approximately 25% of DBA patients and a...

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Detalles Bibliográficos
Autores principales: Badhai, Jitendra, Schuster, Jens, Gidlöf, Olof, Dahl, Niklas
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3055873/
https://www.ncbi.nlm.nih.gov/pubmed/21412415
http://dx.doi.org/10.1371/journal.pone.0017672