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Article

Towards a Cure for Diamond-Blackfan Anemia: Views on Gene Therapy.

Cells - 27 May 2024

Vale Matilde, Prochazka Jan, Sedlacek Radislav

Abstract excerpt

Diamond-Blackfan anemia (DBA) is a rare genetic disorder affecting the bone marrow's ability to produce red blood cells, leading to severe anemia and various physical abnormalities. Approximately 75% of DBA cases involve heterozygous mutations in ribosomal protein (RP) genes, classifying it as a ribosomopathy, with RPS19 being the most frequently mutated gene. Non-RP mutations, such as in GATA1, have also been...

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Identifiers

PMID: 38891052
DOI: 10.3390/cells13110920
PMCID: PMC11172175

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