A rare missense variant in protection of telomeres 1 (POT1) predisposes to a range of haematological malignancies

Br J Haematol. 2021 Jan;192(2):e57-e60. doi: 10.1111/bjh.17218. Epub 2020 Nov 20.
No abstract available

Publication types

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

MeSH terms

  • Female
  • Genetic Predisposition to Disease
  • Germ-Line Mutation
  • Hematologic Neoplasms / genetics*
  • Humans
  • Male
  • Mutation, Missense*
  • Pedigree
  • Shelterin Complex
  • Telomere-Binding Proteins / genetics*

Substances

  • POT1 protein, human
  • Shelterin Complex
  • Telomere-Binding Proteins