Point mutation in Pompe disease in Chinese

J Inherit Metab Dis. 1994;17(1):145-8. doi: 10.1007/BF00735421.
No abstract available

Publication types

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

MeSH terms

  • Base Sequence
  • Blotting, Northern
  • China
  • DNA / chemistry
  • Female
  • Glycogen Storage Disease Type II / genetics*
  • Humans
  • Infant
  • Male
  • Molecular Sequence Data
  • Point Mutation*
  • Polymerase Chain Reaction
  • RNA, Antisense / metabolism
  • alpha-Glucosidases / genetics
  • alpha-Glucosidases / metabolism

Substances

  • RNA, Antisense
  • DNA
  • alpha-Glucosidases