Phenotype-based gene analysis allowed successful diagnosis of X-linked neutropenia associated with a novel WASp mutation

Ann Hematol. 2018 Feb;97(2):367-369. doi: 10.1007/s00277-017-3134-3. Epub 2017 Sep 27.
No abstract available

Publication types

  • Letter

MeSH terms

  • Amino Acid Substitution*
  • Binding Sites
  • Child
  • Female
  • GTP Phosphohydrolases / metabolism
  • Gene Regulatory Networks
  • Genetic Diseases, X-Linked / diagnosis
  • Genetic Diseases, X-Linked / genetics*
  • Genotype
  • Humans
  • Male
  • Mutation, Missense*
  • Neutropenia / congenital*
  • Neutropenia / diagnosis
  • Neutropenia / genetics
  • Phenotype
  • Point Mutation*
  • Wiskott-Aldrich Syndrome Protein / genetics*

Substances

  • WAS protein, human
  • Wiskott-Aldrich Syndrome Protein
  • GTP Phosphohydrolases

Supplementary concepts

  • Neutropenia, Severe Congenital, X-Linked