Article
Molecular convergence in ex vivo models of Diamond-Blackfan anemia.
Blood - 8 Jun 2017
O'Brien Kelly A, Farrar Jason E, Vlachos Adrianna, Anderson Stacie M, Tsujiura Crystiana A, Lichtenberg Jens, Blanc Lionel, Atsidaftos Eva, Elkahloun Abdel, An Xiuli, Ellis Steven R, Lipton Jeffrey M, Bodine David M
Abstract excerpt
Diamond-Blackfan anemia (DBA) is a congenital bone marrow failure syndrome characterized by erythroid hypoplasia, usually without perturbation of other hematopoietic lineages. Approximately 65% of DBA patients with autosomal dominant inheritance have heterozygous mutations or deletions in ribosomal protein (RP) genes while <1% of patients with X-linked inheritance have been identified with mutations in the...
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