Phenotypic heterogeneity and evidence of a founder effect associated with G6PC3 mutations in patients with severe congenital neutropenia

Br J Haematol. 2012 Jul;158(1):146-9. doi: 10.1111/j.1365-2141.2012.09110.x. Epub 2012 Apr 2.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Child
  • Congenital Bone Marrow Failure Syndromes
  • Female
  • Founder Effect*
  • Glucose-6-Phosphatase / genetics*
  • Humans
  • Male
  • Mutation, Missense*
  • Neutropenia / congenital*
  • Neutropenia / enzymology
  • Neutropenia / genetics
  • Phenotype

Substances

  • Glucose-6-Phosphatase
  • G6PC3 protein, human

Supplementary concepts

  • Neutropenia, Severe Congenital, Autosomal Recessive 3