Novel mutations of NP in two patients with purine nucleoside phosphorylase deficiency

Clin Biochem. 2008 Mar;41(4-5):350-2. doi: 10.1016/j.clinbiochem.2007.11.007. Epub 2007 Nov 21.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Aminohydrolases / genetics
  • Child
  • Chromatography, High Pressure Liquid
  • DNA Mutational Analysis
  • Humans
  • Male
  • Mutation*
  • Polymerase Chain Reaction
  • Purine-Nucleoside Phosphorylase / deficiency*
  • Purine-Nucleoside Phosphorylase / genetics*

Substances

  • Purine-Nucleoside Phosphorylase
  • Aminohydrolases
  • adenine deaminase