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Article

Diamond Blackfan anemia: ribosomal proteins going rogue.

Seminars in hematology - 1 Apr 2011

Ellis Steven R, Gleizes Pierre-Emmanuel

Abstract excerpt

Within the decade following the demonstration that mutations in the RPS19 gene can lead to Diamond-Blackfan anemia (DBA), this disease has become a paradigm for an emerging group of pathologies linked to defects in ribosome biogenesis. DBA patients exhibit abnormal pre-rRNA maturation patterns and the majority bear mutations in one of several ribosomal protein genes that encode structural components of the...

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Identifiers

PMID: 21435505
DOI: 10.1053/j.seminhematol.2011.02.005

Genes

RPS19

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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