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Hittade 1 avhandling innehållade orden simona conte.
1. Genotype-phenotype relations in SF3B1 mutated myelodysplastic syndromes with ring sideroblasts
Sammanfattning : Myelodysplastic syndrome with ring sideroblasts (MDS-RS) is a clonal hematopoietic stem cell disorder characterized by hyperplastic and ineffective erythropoiesis, ring sideroblasts in the bone marrow, and anemia. Heterozygous mutations in the spliceosome gene SF3B1 are found in a majority of MDS-RS cases and are associated with the ring sideroblast phenotype and a favorable prognosis. LÄS MER
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