A novel missense mutation (H119L) identified in a Taiwan Chinese family with glycogen storage disease Ia (Von Gierke disease)

Hum Mutat. 2000 Nov;16(5):447. doi: 10.1002/1098-1004(200011)16:5<447::AID-HUMU17>3.0.CO;2-M.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alternative Splicing / genetics
  • China / ethnology
  • Female
  • Glucose-6-Phosphatase / genetics
  • Glycogen Storage Disease Type I / enzymology
  • Glycogen Storage Disease Type I / genetics*
  • Histidine / genetics
  • Humans
  • Leucine / genetics
  • Male
  • Mutation, Missense / genetics*
  • Nuclear Family / ethnology
  • Taiwan / epidemiology

Substances

  • Histidine
  • Glucose-6-Phosphatase
  • Leucine