Article
Development of a high-resolution melting curve analysis screening test for SRSF2 splicing factor gene mutations in myelodysplastic syndromes.
The Journal of molecular diagnostics : JMD - 1 Jan 2015
Garza Eduardo, Fabiani Emiliano, Noguera Nelida, Panetta Paola, Piredda Maria L, Borgia Loredana, Maurillo Luca, Catalano Gianfranco, Voso Maria T, Lo-Coco Francesco
Abstract excerpt
Somatic mutations of the spliceosome machinery have been recently identified by whole genome analysis in hematologic diseases, such as myelodysplastic syndrome, chronic lymphocytic leukemia, myeloproliferative neoplasms, acute myeloid leukemia, and advanced forms of mastocytosis, and also in nonhematologic conditions. SRSF2 is a member of the serine/arginine-rich family pre-mRNA splicing factors that plays a role...
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