Multiplex ligation-dependent probe amplification enhances molecular diagnosis of Diamond-Blackfan anemia due to RPS19 deficiency

Haematologica. 2008 Nov;93(11):1748-50. doi: 10.3324/haematol.13423. Epub 2008 Oct 2.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Anemia, Diamond-Blackfan / diagnosis*
  • Anemia, Diamond-Blackfan / genetics*
  • DNA / genetics
  • Humans
  • Nucleic Acid Denaturation
  • Ribosomal Proteins / deficiency*
  • Ribosomal Proteins / genetics*

Substances

  • Ribosomal Proteins
  • ribosomal protein S19
  • DNA