Adult-onset Diamond-Blackfan anemia with a novel mutation in the exon 5 of RPL11: too late and too rare

Diamond-Blackfan anemia (DBA) is a congenital erythroid aplasia usually diagnosed in the early infancy and associated with mutations or large deletions in 11 ribosomal protein (RP) genes. Adult patients with severe, transfusion dependence, aregenerative anemia might have a genetic-in-origin disease...

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Detalles Bibliográficos
Autores principales: Flores Ballester, Elena, Gil-Fernández, Juan José, Vázquez Blanco, Miguel, Mesa, José M, de Dios García, Juan, Tamayo, Ana T, Burgaleta, Carmen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Ltd 2015
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4498849/
https://www.ncbi.nlm.nih.gov/pubmed/26185635
http://dx.doi.org/10.1002/ccr3.240

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