Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients

J Med Genet. 1995 Oct;32(10):836-7. doi: 10.1136/jmg.32.10.836-a.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Alleles
  • Base Sequence
  • DNA Primers
  • Gene Frequency
  • Glycogen Storage Disease Type II / genetics*
  • Humans
  • Infant
  • Molecular Sequence Data
  • Mutation*
  • Phenotype
  • alpha-Glucosidases / genetics

Substances

  • DNA Primers
  • alpha-Glucosidases