A novel missense mutation in the acid alpha-glucosidase gene causing the classic infantile form of Pompe disease

Clin Chim Acta. 2006 Dec;374(1-2):145-6. doi: 10.1016/j.cca.2006.04.007. Epub 2006 Jun 19.
No abstract available

Publication types

  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Female
  • Glycogen Storage Disease Type II / diagnosis
  • Glycogen Storage Disease Type II / genetics*
  • Humans
  • Infant
  • Molecular Sequence Data
  • Mutation, Missense*
  • alpha-Glucosidases / genetics*

Substances

  • GAA protein, human
  • alpha-Glucosidases