Hematopoietic stem cell defects in Diamond-Blackfan Anemia
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Diamond-Blackfan anemia (DBA) is a rare inherited bone marrow failure disorder caused mainly by heterozygous loss-of-function mutations in 24 out of 83 ribosomal protein genes, with RPS19 being the most commonly affected gene. DBA usually presents with isolated erythroid production failure during infancy, although…
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