Identification of a 5' splice junction mutation in the debranching enzyme gene in a Japanese patient with glycogen storage disease type IIIa

J Inherit Metab Dis. 2000 Jul;23(5):527-8. doi: 10.1023/a:1005632818722.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Case-Control Studies
  • Female
  • Glycogen Debranching Enzyme System / deficiency*
  • Glycogen Debranching Enzyme System / genetics*
  • Glycogen Storage Disease Type III / enzymology*
  • Glycogen Storage Disease Type III / genetics*
  • Humans
  • Mutation*
  • RNA Splicing / genetics

Substances

  • Glycogen Debranching Enzyme System