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Novel recurrent mutations in ethanolamine kinase 1 (ETNK1) gene in systemic mastocytosis with eosinophilia and chronic myelomonocytic leukemia
Although KITD816V occurs universally in adult systemic mastocytosis (SM), the clinical heterogeneity of SM suggests presence of additional phenotype-patterning mutations. Because up to 25% of SM patients have KITD816V-positive eosinophilia, we undertook whole-exome sequencing in a patient with aggre...
Autores principales: | Lasho, T L, Finke, C M, Zblewski, D, Patnaik, M, Ketterling, R P, Chen, D, Hanson, C A, Tefferi, A, Pardanani, A |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4314457/ https://www.ncbi.nlm.nih.gov/pubmed/25615281 http://dx.doi.org/10.1038/bcj.2014.94 |
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