Concurrent JAK2(V617F) mutation and MTHFR(C677T) homozygosity in an adolescent with polycythemia vera: case report and discussion

Clin Pediatr (Phila). 2013 Jul;52(7):671-4. doi: 10.1177/0009922812447280. Epub 2012 May 23.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Female
  • Genetic Markers
  • Homozygote*
  • Humans
  • Janus Kinase 2 / genetics*
  • Methylenetetrahydrofolate Reductase (NADPH2) / genetics*
  • Point Mutation*
  • Polycythemia Vera / diagnosis
  • Polycythemia Vera / genetics*

Substances

  • Genetic Markers
  • MTHFR protein, human
  • Methylenetetrahydrofolate Reductase (NADPH2)
  • JAK2 protein, human
  • Janus Kinase 2