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Article

Molecular basis of Diamond-Blackfan anaemia: what have we learnt so far? Review article.

Sbornik lekarsky - 1 Jan 2003

Cmejla R, Cmejlová J

Abstract excerpt

A considerable progress has been made in the last three years in the uncovering of the molecular basis of Diamond-Blackfan anaemia (DBA). Two genetic loci on 19q13.2 and 8p23 chromosomes have been associated with the DBA phenotype, and the ribosomal protein S19 (RP S19) located at 19q has been found mutated in 25% of DBA patients. In this review we will outline possible mechanisms of how mutations in RP S19 might...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 14577127

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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