A novel JAK3 mutation in a Japanese patient with severe combined immunodeficiency

Pediatr Int. 2005 Oct;47(5):575-8. doi: 10.1111/j.1442-200x.2005.02103.x.
No abstract available

Publication types

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

MeSH terms

  • Female
  • Humans
  • Infant
  • Janus Kinase 3
  • Japan
  • Mutation, Missense / genetics*
  • Protein-Tyrosine Kinases / genetics*
  • Severe Combined Immunodeficiency / genetics*

Substances

  • Protein-Tyrosine Kinases
  • JAK3 protein, human
  • Janus Kinase 3