SF3B1 haploinsufficiency leads to formation of ring sideroblasts in myelodysplastic syndromes

SF3B1 haploinsufficiency leads to formation of ring sideroblasts in myelodysplastic syndromes

Valeria Visconte, Heesun J. Rogers, Jarnail Singh, John Barnard, Manoj Bupathi, Fabiola Traina, James McMahon, Hideki Makishima, Hadrian Szpurka, Anna Jankowska, Andres Jerez, Mikkael A. Sekeres, Yogen Saunthararajah, Anjali S. Advani, Edward Copelan, Haruhiko Koseki, Kyoichi Isono, Richard A....

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Inglês

Whole exome/genome sequencing has been fundamental in the identification of somatic mutations in the spliceosome machinery in myelodysplastic syndromes (MDSs) and other hematologic disorders. SF3B1, splicing factor 3b subunit 1 is mutated in 60%-80% of refractory anemia with ring sideroblasts (RARS)...

Fechado

SF3B1 haploinsufficiency leads to formation of ring sideroblasts in myelodysplastic syndromes

Valeria Visconte, Heesun J. Rogers, Jarnail Singh, John Barnard, Manoj Bupathi, Fabiola Traina, James McMahon, Hideki Makishima, Hadrian Szpurka, Anna Jankowska, Andres Jerez, Mikkael A. Sekeres, Yogen Saunthararajah, Anjali S. Advani, Edward Copelan, Haruhiko Koseki, Kyoichi Isono, Richard A....


										

SF3B1 haploinsufficiency leads to formation of ring sideroblasts in myelodysplastic syndromes

Valeria Visconte, Heesun J. Rogers, Jarnail Singh, John Barnard, Manoj Bupathi, Fabiola Traina, James McMahon, Hideki Makishima, Hadrian Szpurka, Anna Jankowska, Andres Jerez, Mikkael A. Sekeres, Yogen Saunthararajah, Anjali S. Advani, Edward Copelan, Haruhiko Koseki, Kyoichi Isono, Richard A....

    Fontes

    Blood: the journal of hematology

    Vol. 120, no. 16 (2012), p. 3173-3186