Severe congenital neutropenia: a negative synergistic effect of multiple mutations of ELANE (ELA2) gene

Br J Haematol. 2009 Sep;146(5):578-80. doi: 10.1111/j.1365-2141.2009.07787.x. Epub 2009 Jul 6.
No abstract available

Publication types

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

MeSH terms

  • Child, Preschool
  • Female
  • Humans
  • Leukocyte Elastase / genetics*
  • Mutation*
  • Neutropenia / congenital*
  • Neutropenia / genetics*
  • Protein Conformation
  • Sequence Analysis, DNA

Substances

  • Leukocyte Elastase