5′UTR Variants of Ribosomal Protein S19 Transcript Determine Translational Efficiency: Implications for Diamond-Blackfan Anemia and Tissue Variability
Author:
Publisher
Public Library of Science (PLoS)
Subject
Multidisciplinary
Reference39 articles.
1. Diamond Blackfan anemia: a disorder of red blood cell development.;SR Ellis;Curr Top Dev Biol,2008
2. The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia.;N Draptchinskaia;Nat Genet,1999
3. The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update.;I Boria;Hum Mutat,2010
4. RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations.;HT Gazda;Br J Haematol,2004
5. Molecular basis of Diamond-Blackfan anemia: structure and function analysis of RPS19.;LA Gregory;Nucleic Acids Res,2007
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