A novel TERC CR4/CR5 domain mutation causes telomere disease via decreased TERT binding

Blood. 2016 Oct 20;128(16):2089-2092. doi: 10.1182/blood-2016-04-710160. Epub 2016 Sep 1.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Female
  • Humans
  • Male
  • Mutation*
  • Nucleic Acid Conformation
  • Protein Binding
  • RNA / chemistry
  • RNA / genetics*
  • RNA / metabolism
  • Siblings
  • Telomerase / chemistry
  • Telomerase / genetics*
  • Telomerase / metabolism*
  • Telomere / metabolism*
  • Thrombocytopenia / genetics*
  • Thrombocytopenia / metabolism

Substances

  • telomerase RNA
  • RNA
  • TERT protein, human
  • Telomerase