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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Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society of Hematology 2012
Témata:
Plenary Paper
On-line přístup: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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