Search for dissertations about: "Simona Conte"

Found 1 swedish dissertation containing the words Simona Conte.

2. 1. Genotype-phenotype relations in SF3B1 mutated myelodysplastic syndromes with ring sideroblasts

   Author : Simona Conte; Karolinska Institutet; Karolinska Institutet; []
   Keywords : ;

   Abstract : 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. READ MORE