A novel G6PC3 homozygous 1-bp deletion as a cause of severe congenital neutropenia

Blood. 2009 Aug 20;114(8):1718-9. doi: 10.1182/blood-2009-04-219451.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Amino Acid Sequence
  • Base Pairing / genetics
  • DNA Mutational Analysis
  • Glucose-6-Phosphatase / genetics*
  • Homozygote
  • Humans
  • Male
  • Neutropenia / congenital*
  • Neutropenia / genetics*
  • Pedigree
  • Sequence Deletion / physiology
  • Young Adult

Substances

  • Glucose-6-Phosphatase
  • G6PC3 protein, human