A novel mutation Ala57Val of the ELA2 gene in a Korean boy with severe congenital neutropenia

Ann Hematol. 2009 Jun;88(6):593-5. doi: 10.1007/s00277-008-0629-y. Epub 2008 Oct 23.
No abstract available

Publication types

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

MeSH terms

  • Alanine / genetics
  • Alanine / metabolism
  • Child, Preschool
  • Computational Biology
  • Humans
  • Korea
  • Leukocyte Elastase / genetics*
  • Leukocyte Elastase / metabolism
  • Male
  • Mutation / genetics*
  • Neutropenia / congenital*
  • Neutropenia / enzymology
  • Neutropenia / genetics*
  • Neutropenia / pathology

Substances

  • Leukocyte Elastase
  • Alanine