Compound heterozygous protein C variants undetectable by common laboratory testing causing purpura fulminans after the neonatal period

Am J Hematol. 2020 Dec;95(12):1616-1621. doi: 10.1002/ajh.25976. Epub 2020 Sep 24.
No abstract available

MeSH terms

  • Amino Acid Substitution
  • Base Sequence*
  • Blood Coagulation Tests
  • Child, Preschool
  • Exons*
  • Female
  • Humans
  • Infant, Newborn
  • Protein C* / genetics
  • Protein C* / metabolism
  • Purpura Fulminans* / blood
  • Purpura Fulminans* / genetics
  • Purpura Fulminans* / pathology
  • Purpura Fulminans* / therapy
  • Sequence Deletion*

Substances

  • Protein C