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

  • 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 Falini, Inderjeet Dokal, Keisuke Ito, John G. Clohessy, Pier Paolo Pandolfi*
*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

116 Scopus citations

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Biochemistry, Genetics and Molecular Biology