Sökning: "Simona Conte"

Hittade 1 avhandling innehållade orden Simona Conte.

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

   Författare :Simona Conte; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   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