Article
Diamond-Blackfan anemia.
Blood - 10 Sept 2020
Da Costa Lydie, Leblanc Thierry, Mohandas Narla
Abstract excerpt
Diamond-Blackfan anemia (DBA) was the first ribosomopathy described and is a constitutional inherited bone marrow failure syndrome. Erythroblastopenia is the major characteristic of the disease, which is a model for ribosomal diseases, related to a heterozygous allelic variation in 1 of the 20 ribosomal protein genes of either the small or large ribosomal subunit. The salient feature of classical DBA is a defect...
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