Identification of three novel mutations in the PHKA2 gene in Czech patients with X-linked liver glycogenosis

J Inherit Metab Dis. 2001 Feb;24(1):85-7. doi: 10.1023/a:1005635629149.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Child
  • Czech Republic
  • Female
  • Genetic Linkage
  • Glycogen Storage Disease / genetics*
  • Humans
  • Male
  • Mutation*
  • Phosphorylase Kinase / deficiency
  • Phosphorylase Kinase / genetics*
  • X Chromosome*

Substances

  • Phosphorylase Kinase