Please use this identifier to cite or link to this item:
|Title:||Adult-onset Diamond-Blackfan anemia with a novel mutation in the exon 5 of RPL11: too late and too rare.|
|Citation:||Clin Case Rep.2015 Jun;(3)6:392-5|
|Abstract:||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 with an atypical presentation. Late onset nonclassical DBA should be ruled out and mutations of RP genes studied.|
|Appears in Collections:||Fundaciones e Institutos de Investigación > FIB H. U. Príncipe de Asturias > Artículos|
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.