Mutation at the catalytic site (M519V) in glycogen storage disease type II (Pompe disease)

Hum Mutat. 1994;4(4):291-3. doi: 10.1002/humu.1380040410.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • DNA Mutational Analysis*
  • Glycogen Storage Disease Type II / genetics*
  • Humans
  • Infant
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Polymerase Chain Reaction