Spliceosome mutations in hematopoietic malignancies

CN Hahn, HS Scott - Nature genetics, 2012 - nature.com
Nature genetics, 2012nature.com
Recent studies, including two in this issue, report heterozygous missense mutations in the
U2AF1 and SF3B1 genes that encode spliceosome subunits. U2AF1 is frequently mutated in
myeloid hematopoietic malignancies, especially in myelodysplastic syndrome (MDS), and
SF3B1 is frequently mutated in both MDS and chronic lymphocytic leukemia (CLL).
Recent studies, including two in this issue, report heterozygous missense mutations in the U2AF1 and SF3B1 genes that encode spliceosome subunits. U2AF1 is frequently mutated in myeloid hematopoietic malignancies, especially in myelodysplastic syndrome (MDS), and SF3B1 is frequently mutated in both MDS and chronic lymphocytic leukemia (CLL).
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