Clinical utility gene card for: dyskeratosis congenita

Eur J Hum Genet. 2011 Nov;19(11). doi: 10.1038/ejhg.2011.90. Epub 2011 May 25.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Cycle Proteins / genetics
  • Dyskeratosis Congenita / diagnosis*
  • Dyskeratosis Congenita / genetics*
  • Humans
  • Mutation
  • Nuclear Proteins / genetics
  • Ribonucleoproteins, Small Nuclear / genetics
  • Ribonucleoproteins, Small Nucleolar / genetics
  • Telomerase / genetics
  • Telomere-Binding Proteins

Substances

  • Cell Cycle Proteins
  • DKC1 protein, human
  • NHP2 protein, human
  • NOP10 protein, human
  • Nuclear Proteins
  • Ribonucleoproteins, Small Nuclear
  • Ribonucleoproteins, Small Nucleolar
  • TINF2 protein, human
  • Telomere-Binding Proteins
  • TERT protein, human
  • Telomerase