Germline NPM1 mutations lead to altered rRNA 2′-O-methylation and cause dyskeratosis congenita

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Authors: 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, Schraga Schwartz, Lucio Luzzatto, Olivier Bluteau, Jean Soulier, Robert B. Darnell, Brunangelo Fali

Journal title: Nature Genetics

Journal number: 51/10

Journal publisher: Nature Publishing Group

Published year: 2019

Published pages: 1518-1529

DOI identifier: 10.1038/s41588-019-0502-z

ISSN: 1061-4036