Possibility of somatic mosaicism of ELA2 mutation overlooked in an asymptomatic father transmitting severe congenital neutropenia to two offspring

Br J Haematol. 2002 Sep;118(3):923; author reply 923-4. doi: 10.1046/j.1365-2141.2002.03631_3.x.
No abstract available

Publication types

  • Comment
  • Letter

MeSH terms

  • Female
  • Humans
  • Leukocyte Elastase / genetics*
  • Male
  • Mosaicism*
  • Mutation, Missense
  • Neutropenia / genetics*
  • Pedigree

Substances

  • Leukocyte Elastase