A novel missense mutation in the HAX1 gene in severe congenital neutropenia patients (Kostmann disease)

Clin Genet. 2009 Dec;76(6):569-72. doi: 10.1111/j.1399-0004.2009.01244.x. Epub 2009 Oct 1.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adaptor Proteins, Signal Transducing
  • Amino Acid Sequence
  • Base Sequence
  • Blood Cell Count
  • Child
  • Child, Preschool
  • DNA Mutational Analysis
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Molecular Sequence Data
  • Mutation, Missense / genetics*
  • Neutropenia / congenital*
  • Neutropenia / genetics*
  • Pedigree
  • Proteins / chemistry
  • Proteins / genetics*

Substances

  • Adaptor Proteins, Signal Transducing
  • HAX1 protein, human
  • Proteins