A novel pathogenic mutation in RPL11 identified in a patient diagnosed with diamond Blackfan anemia as a young adult

Blood Cells Mol Dis. 2016 Oct:61:46-7. doi: 10.1016/j.bcmd.2016.08.001. Epub 2016 Aug 17.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Extramural

MeSH terms

  • Adult
  • Anemia, Diamond-Blackfan / blood
  • Anemia, Diamond-Blackfan / diagnosis*
  • Anemia, Diamond-Blackfan / genetics*
  • Humans
  • Male
  • Ribosomal Proteins / genetics*
  • Ribosomal Proteins / metabolism
  • Young Adult

Substances

  • Ribosomal Proteins
  • ribosomal protein L11