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Refractory anemia with ring sideroblasts and marked thrombocytosis cases harbor mutations in SF3B1 or other spliceosome genes accompanied by JAK2V617F and ASXL1 mutations.
Jeromin S, Haferlach T, Weissmann S, Meggendorfer M, Eder C, Nadarajah N, Alpermann T, Kohlmann A, Kern W, Haferlach C, Schnittger S. Jeromin S, et al. Among authors: schnittger s. Haematologica. 2015 Apr;100(4):e125-7. doi: 10.3324/haematol.2014.119032. Epub 2014 Dec 19. Haematologica. 2015. PMID: 25527566 Free PMC article. No abstract available.
Use of CBL exon 8 and 9 mutations in diagnosis of myeloproliferative neoplasms and myelodysplastic/myeloproliferative disorders: an analysis of 636 cases.
Schnittger S, Bacher U, Alpermann T, Reiter A, Ulke M, Dicker F, Eder C, Kohlmann A, Grossmann V, Kowarsch A, Kern W, Haferlach C, Haferlach T. Schnittger S, et al. Haematologica. 2012 Dec;97(12):1890-4. doi: 10.3324/haematol.2012.065375. Epub 2012 Jun 24. Haematologica. 2012. PMID: 22733026 Free PMC article.
High frequencies of SF3B1 and JAK2 mutations in refractory anemia with ring sideroblasts associated with marked thrombocytosis strengthen the assignment to the category of myelodysplastic/myeloproliferative neoplasms.
Jeromin S, Haferlach T, Grossmann V, Alpermann T, Kowarsch A, Haferlach C, Kern W, Schnittger S. Jeromin S, et al. Among authors: schnittger s. Haematologica. 2013 Feb;98(2):e15-7. doi: 10.3324/haematol.2012.072538. Epub 2012 Aug 28. Haematologica. 2013. PMID: 22929973 Free PMC article. No abstract available.
384 results