Characteristic vacuolization of myeloid precursors and UBA1 mutation in a woman with monosomy X

Int J Lab Hematol. 2022 Feb;44(1):29-30. doi: 10.1111/ijlh.13617. Epub 2021 Jun 10.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Amino Acid Substitution
  • Female
  • Humans
  • Mutation, Missense*
  • Myeloid Progenitor Cells* / metabolism
  • Myeloid Progenitor Cells* / pathology
  • Turner Syndrome* / genetics
  • Turner Syndrome* / metabolism
  • Turner Syndrome* / pathology
  • Ubiquitin-Activating Enzymes* / genetics
  • Ubiquitin-Activating Enzymes* / metabolism
  • Vacuoles* / genetics
  • Vacuoles* / metabolism
  • Vacuoles* / pathology

Substances

  • UBA1 protein, human
  • Ubiquitin-Activating Enzymes