Alu-mediated Recombination in the HAX1 Gene as the Molecular Basis of Severe Congenital Neutropenia

Am J Med Genet A. 2011 Mar;155A(3):660-1. doi: 10.1002/ajmg.a.33893. Epub 2011 Feb 22.

Publication types

  • Case Reports
  • Comment
  • Letter

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics*
  • Alu Elements / genetics*
  • Child, Preschool
  • Genome, Human / genetics
  • Humans
  • Infant
  • Introns / genetics
  • Male
  • Neutropenia / complications*
  • Neutropenia / genetics*
  • Neutropenia / pathology
  • Recombination, Genetic / genetics*
  • Sequence Deletion

Substances

  • Adaptor Proteins, Signal Transducing
  • HAX1 protein, human