Germline NPM1 mutations lead to altered rRNA 2'-O-methylation and cause dyskeratosis congenita
种系 NPM1 突变导致 rRNA 2'-O-甲基化改变并引起先天性角化不良
期刊:Nature Genetics
影响因子:31.7
doi:10.1038/s41588-019-0502-z
Daphna Nachmani, Anne H Bothmer, Silvia Grisendi, Aldo Mele, Dietmar Bothmer, Jonathan D Lee, Emanuele Monteleone, Ke Cheng, Yang Zhang, Assaf C Bester, Alison Guzzetti, Caitlin A Mitchell, Lourdes M Mendez, Olga Pozdnyakova, Paolo Sportoletti, Maria-Paola Martelli, Tom J Vulliamy, Modi Safra, Schra
