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Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits

Diamond-Blackfan anemia (DBA) typically presents with red blood cell aplasia that usually manifests in the first year of life. The only gene currently known to be mutated in DBA encodes ribosomal protein S19 (RPS19). Previous studies have shown that the yeast RPS19 protein is required for a specific...

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Detalhes bibliográficos
Main Authors: Flygare, Johan, Aspesi, Anna, Bailey, Joshua C., Miyake, Koichi, Caffrey, Jacqueline M., Karlsson, Stefan, Ellis, Steven R.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Hematology 2007
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1785147/
https://ncbi.nlm.nih.gov/pubmed/16990592
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2006-07-038232
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