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1 similar mutations in GATA1 in patients with Diamond-Blackfan anemia.
2 and an erythroid phenotype highly similar to Diamond-Blackfan anemia.
3 ther genes encoding ribosomal proteins cause Diamond-Blackfan anemia, a disorder characterized by hyp
4 and inherited GATA1 mutations contribute to Diamond-Blackfan anemia, acute megakaryoblastic leukemia
5 nts (235 acquired, 85 Fanconi anemia, and 10 Diamond-Blackfan anemia) and their unrelated donors who
6 are Fanconi anemia, dyskeratosis congenita, Diamond Blackfan anemia, and Shwachman Diamond syndrome.
9 plicated in 5q- myelodysplastic syndrome and Diamond Blackfan anemia, but the cellular and pathophysi
14 potent stem cells (iPSs) from fibroblasts of Diamond Blackfan anemia (DBA) patients with 2 distinct r
15 s in genes encoding ribosomal proteins cause Diamond Blackfan Anemia (DBA), a red cell aplasia often
19 erythroid development observed in congenital Diamond-Blackfan anemia (DBA) and acquired 5q-syndrome.
20 the common basis for the anemia observed in Diamond-Blackfan anemia (DBA) and myelodysplastic syndro
21 cell transfusion dependence in patients with Diamond-Blackfan anemia (DBA) and myelodysplastic syndro
22 as been implicated in the pathophysiology of Diamond-Blackfan anemia (DBA) and the 5q-syndrome, a sub
23 al manifestations; we use the well-described Diamond-Blackfan anemia (DBA) as a specific example to h
24 at some patients with the erythroblastopenia Diamond-Blackfan anemia (DBA) have mutations in ribosoma
39 teins in transfusion-dependent patients with Diamond-Blackfan anemia (DBA) to determine if these inte
42 e mutated in 25% of the patients affected by Diamond-Blackfan anemia (DBA), a congenital erythroblast
43 in several ribosomal proteins (RPs) lead to Diamond-Blackfan anemia (DBA), a syndrome characterized
45 enita (DC), cartilage-hair hypoplasia (CHH), Diamond-Blackfan anemia (DBA), and Shwachman-Diamond syn
46 y occurs in diverse human diseases including Diamond-Blackfan anemia (DBA), congenital asplenia and T
47 s (RPs) occur in 50%-70% of individuals with Diamond-Blackfan anemia (DBA), establishing the disease
48 362 patients clinically classified as having Diamond-Blackfan anemia (DBA), in which 175 (48%) were f
49 bosomal protein genes in the human result in Diamond-Blackfan anemia, demonstrating that metabolite d
52 overload conditions, including in particular Diamond-Blackfan anemia, sideroblastic anemia, and hered
53 ology of a group of genetic diseases such as Diamond Blackfan Anemia which are called ribosomopathies
54 n of metoclopramide therapy in patients with Diamond-Blackfan anemia who were refractory to low doses
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