Novel donor splice site mutations of AGL gene in glycogen storage disease type IIIa

J Inherit Metab Dis. 1999 Aug;22(6):762-3. doi: 10.1023/a:1005572906807.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • DNA Mutational Analysis
  • Female
  • Glycogen Debranching Enzyme System / genetics*
  • Glycogen Debranching Enzyme System / metabolism
  • Glycogen Storage Disease Type III / enzymology*
  • Glycogen Storage Disease Type III / genetics*
  • Humans
  • Mutation*
  • RNA Splicing*
  • RNA, Messenger / genetics

Substances

  • Glycogen Debranching Enzyme System
  • RNA, Messenger
  • 4 alpha-glucanotransferase