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...

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Detalles Bibliográficos
Autores principales: Lasho, T L, Finke, C M, Zblewski, D, Patnaik, M, Ketterling, R P, Chen, D, Hanson, C A, Tefferi, A, Pardanani, A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Original Article
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

Internet

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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