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Primary hematopoietic cells from DBA patients with mutations in RPL11 and RPS19 genes exhibit distinct erythroid phenotype in vitro

Diamond-Blackfan anemia (DBA) is caused by aberrant ribosomal biogenesis due to ribosomal protein (RP) gene mutations. To develop mechanistic understanding of DBA pathogenesis, we studied CD34(+) cells from peripheral blood of DBA patients carrying RPL11 and RPS19 ribosomal gene mutations and determ...

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Detalles Bibliográficos
Autores principales: Moniz, H, Gastou, M, Leblanc, T, Hurtaud, C, Crétien, A, Lécluse, Y, Raslova, H, Larghero, J, Croisille, L, Faubladier, M, Bluteau, O, Lordier, L, Tchernia, G, Vainchenker, W, Mohandas, N, Da Costa, L
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3406587/
https://www.ncbi.nlm.nih.gov/pubmed/22833095
http://dx.doi.org/10.1038/cddis.2012.88