SF3B1 haploinsufficiency leads to formation of ring sideroblasts in myelodysplastic syndromes

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)...

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Detalhes bibliográficos
Main Authors: Visconte, Valeria, Rogers, Heesun J., Singh, Jarnail, Barnard, John, Bupathi, Manoj, Traina, Fabiola, McMahon, James, Makishima, Hideki, Szpurka, Hadrian, Jankowska, Anna, Jerez, Andres, Sekeres, Mikkael A., Saunthararajah, Yogen, Advani, Anjali S., Copelan, Edward, Koseki, Haruhiko, Isono, Kyoichi, Padgett, Richard A., Osman, Sami, Koide, Kazunori, O'Keefe, Christine, Maciejewski, Jaroslaw P., Tiu, Ramon V.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Hematology 2012
Assuntos:
Plenary Paper
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3476536/
https://ncbi.nlm.nih.gov/pubmed/22826563
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2012-05-430876
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