Identification of a novel missense mutation (T16A) in the glucose-6-phosphatase gene in a Taiwan Chinese patient with glycogen storage disease Ia (Von Gierke disease)

Hum Mutat. 2000 Apr;15(4):390. doi: 10.1002/(SICI)1098-1004(200004)15:4<390::AID-HUMU32>3.0.CO;2-N.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alanine
  • Amino Acid Substitution / genetics
  • Asian People / genetics
  • China / ethnology
  • Glucose-6-Phosphatase / genetics*
  • Glycogen Storage Disease Type I / enzymology*
  • Glycogen Storage Disease Type I / genetics*
  • Humans
  • Mutation, Missense / genetics*
  • Phenotype
  • Threonine

Substances

  • Threonine
  • Glucose-6-Phosphatase
  • Alanine