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Article

A new database for ribosomal protein genes which are mutated in Diamond-Blackfan Anemia.

Human mutation - 1 Nov 2008

Boria Ilenia, Quarello Paola, Avondo Federica, Garelli Emanuela, Aspesi Anna, Carando Adriana, Campagnoli Maria Francesca, Dianzani Irma, Ramenghi Ugo

Abstract excerpt

Mutations in ribosomal proteins RPS19, RPS24 and RPS17 have been reported in Diamond-Blackfan Anemia (DBA), an autosomal dominant disease characterised by pure red cell aplasia. DBA is the prototype of ribosomapathies: a protein synthesis defect in a tissue with a high cellular turnover is considered the cause of the erythroid progenitor failure. We have created the Diamond-Blackfan Anemia mutation database to...

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Share to Anemia, Diamond-Blackfan
Share to Databases, Nucleic Acid

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to RPS19 gene

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Source

Identifiers

PMID: 18781615
DOI: 10.1002/humu.20864

Genes

RPS17
RPS19
RPS24

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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