Structural modeling of a novel TERC variant in a patient with aplastic anemia and short telomeres

Ann Hematol. 2019 Mar;98(3):805-807. doi: 10.1007/s00277-018-3415-5. Epub 2018 Jul 6.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Anemia, Aplastic / genetics*
  • Female
  • Hematologic Diseases / genetics
  • Heterozygote
  • Humans
  • Male
  • Models, Molecular
  • Nucleic Acid Conformation
  • Pedigree
  • RNA / genetics*
  • Telomerase / genetics*
  • Telomere / ultrastructure*
  • Telomere Homeostasis / genetics*

Substances

  • telomerase RNA
  • RNA
  • Telomerase