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Title: Adult-onset Diamond-Blackfan anemia with a novel mutation in the exon 5 of RPL11: too late and too rare.
Issue Date: Jun-2015
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.
PMID: 26185635
Rights: openAccess
ISSN: 2050-0904
Appears in Collections:Fundaciones e Institutos de Investigación > FIB H. U. Príncipe de Asturias > Artículos

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