Differences in Disease Severity but Similar Telomere Lengths in Genetic Subgroups of Patients with Telomerase and Shelterin Mutations

por Vulliamy, Tom J., Kirwan, Michael J., Beswick, Richard, Hossain, Upal, Baqai, Charlotte, Ratcliffe, Anna, Marsh, Judith, Walne, Amanda, Dokal, Inderjeet
Publicado 2011

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

por Nachmani, Daphna, Bothmer, Anne H., Grisendi, Silvia, Mele, Aldo, Bothmer, Dietmar, Lee, Jonathan D., Monteleone, Emanuele, Cheng, Ke, Zhang, Yang, Bester, Assaf C., Guzzetti, Alison, Mitchell, Caitlin A., Mendez, Lourdes M., Pozdnyakova, Olga, Sportoletti, Paolo, Martelli, Maria-Paola, Vulliamy, Tom J., Safra, Modi, Schwartz, Schraga, Luzzatto, Lucio, Bluteau, Olivier, Soulier, Jean, Darnell, Robert B., Falini, Brunangelo, Dokal, Inderjeet, Ito, Keisuke, Clohessy, John G., Pandolfi, Pier Paolo
Publicado 2019