Double de novo mutations of ELANE (ELA2) in a patient with severe congenital neutropenia requiring high-dose G-CSF therapy

Br J Haematol. 2009 Nov;147(4):587-90. doi: 10.1111/j.1365-2141.2009.07866.x. Epub 2009 Aug 19.
No abstract available

Publication types

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

MeSH terms

  • Base Sequence
  • Child
  • DNA Mutational Analysis / methods
  • Granulocyte Colony-Stimulating Factor / therapeutic use*
  • Humans
  • Leukocyte Elastase / genetics*
  • Male
  • Mutation, Missense*
  • Neutropenia / genetics*

Substances

  • Granulocyte Colony-Stimulating Factor
  • Leukocyte Elastase