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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Détails bibliographiques
Auteurs principaux: 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.
Format: Artigo
Langue:Inglês
Publié: American Society of Hematology 2012
Sujets:
Plenary Paper
Accès en ligne: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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