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Article

Molecular mechanisms of pathology and treatment in Diamond Blackfan Anaemia.

British journal of haematology - 1 Dec 2012

Horos Rastislav, von Lindern Marieke

Abstract excerpt

Diamond Blackfan Anaemia (DBA) is a rare congenital pure red cell aplasia that may be associated with facio-skeletal developmental defects. The disease is caused by mutations in one of at least ten ribosomal proteins, which results in haploinsufficiency and an imbalance between the synthesis of r...

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Identifiers

PMID: 23016900
DOI: 10.1111/bjh.12058

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23016900-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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