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- W2029042565 endingPage "282" @default.
- W2029042565 startingPage "261" @default.
- W2029042565 abstract "Diamond-Blackfan anemia (DBA) is a genetically and clinically heterogeneous disorder characterized by erythroid failure, congenital anomalies, and a predisposition to cancer. Faulty ribosome biogenesis, resulting in proapoptotic erythropoiesis leading to erythroid failure, is hypothesized to be the underlying defect. The genes identified to date that are mutated in DBA all encode ribosomal proteins associated with either the small or large subunit and in these cases haploinsufficiency gives rise to the disease. Extraordinarily robust laboratory and clinical investigations have recently led to demonstrable improvements in clinical care for patients with DBA." @default.
- W2029042565 created "2016-06-24" @default.
- W2029042565 creator A5029500933 @default.
- W2029042565 creator A5044759942 @default.
- W2029042565 date "2009-04-01" @default.
- W2029042565 modified "2023-10-16" @default.
- W2029042565 title "Diamond-Blackfan Anemia: Diagnosis, Treatment, and Molecular Pathogenesis" @default.
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- W2029042565 doi "https://doi.org/10.1016/j.hoc.2009.01.004" @default.
- W2029042565 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/2886591" @default.
- W2029042565 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/19327583" @default.