Dutch patients with glycogen storage disease type II show common ancestry for the 525delT and del exon 18 mutations

J Med Genet. 2001 Aug;38(8):527-9. doi: 10.1136/jmg.38.8.527.
No abstract available

Publication types

  • Letter

MeSH terms

  • DNA / genetics
  • Exons / genetics*
  • Glucan 1,4-alpha-Glucosidase / genetics*
  • Glucan 1,4-alpha-Glucosidase / metabolism
  • Glycogen Storage Disease Type II / enzymology
  • Glycogen Storage Disease Type II / genetics*
  • Haplotypes
  • Mutation
  • Netherlands
  • Polymorphism, Single Nucleotide
  • Sequence Deletion
  • alpha-Glucosidases

Substances

  • DNA
  • alpha-Glucosidases
  • Glucan 1,4-alpha-Glucosidase