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SETD2 and histone H3 lysine 36 methylation deficiency in advanced systemic mastocytosis
The molecular basis of advanced systemic mastocytosis (SM) is not fully understood and despite novel therapies the prognosis remains dismal. Exome sequencing of an index-patient with mast cell leukemia (MCL) uncovered biallelic loss-of-function mutations in the SETD2 histone methyltransferase gene....
Autores principales: | Martinelli, G, Mancini, M, De Benedittis, C, Rondoni, M, Papayannidis, C, Manfrini, M, Meggendorfer, M, Calogero, R, Guadagnuolo, V, Fontana, M C, Bavaro, L, Padella, A, Zago, E, Pagano, L, Zanotti, R, Scaffidi, L, Specchia, G, Albano, F, Merante, S, Elena, C, Savini, P, Gangemi, D, Tosi, P, Ciceri, F, Poletti, G, Riccioni, L, Morigi, F, Delledonne, M, Haferlach, T, Cavo, M, Valent, P, Soverini, S |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5770597/ https://www.ncbi.nlm.nih.gov/pubmed/28663576 http://dx.doi.org/10.1038/leu.2017.183 |
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