Identification of a novel nonsense mutation (Q24X) in the glucose-6-phosphatase gene of a Portuguese patient with GSD Ia (von Gierke disease)

Hum Mutat. 2000 Nov;16(5):449. doi: 10.1002/1098-1004(200011)16:5<449::AID-HUMU25>3.0.CO;2-L.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Substitution / genetics
  • Codon, Nonsense / genetics*
  • Codon, Terminator / genetics
  • Glucose-6-Phosphatase / genetics*
  • Glutamine / genetics
  • Glycogen Storage Disease Type I / enzymology*
  • Glycogen Storage Disease Type I / genetics*
  • Humans
  • Mutation, Missense / genetics*
  • Portugal

Substances

  • Codon, Nonsense
  • Codon, Terminator
  • Glutamine
  • Glucose-6-Phosphatase