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Article

Ribosomal RNA analysis in the diagnosis of Diamond-Blackfan Anaemia.

British journal of haematology - 1 Mar 2016

Quarello Paola, Garelli Emanuela, Carando Adriana, Mancini Cecilia, Foglia Luiselda, Botto Carlotta, Farruggia Piero, De Keersmaecker Kim, Aspesi Anna, Ellis Steve R, Dianzani Irma, Ramenghi Ugo

Abstract excerpt

Diamond-Blackfan anaemia (DBA) is an inherited disease characterized by pure erythroid aplasia that has been tagged as a 'ribosomopathy'. We report a multi-centre study focused on the analysis of rRNA processing of 53 Italian DBA patients using capillary electrophoresis analysis of rRNA maturation of the 40S and 60S ribosomal subunits. The ratio of 28S/18S rRNA was higher in patients with mutated ribosomal...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 26763766
DOI: 10.1111/bjh.13880

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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