Two novel mutations in patients with atypical phenotypes of acid sphingomyelinase deficiency

J Inherit Metab Dis. 1997 Aug;20(4):615-6. doi: 10.1023/a:1005387932546.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • DNA / analysis
  • Humans
  • Male
  • Mutation / physiology*
  • Phenotype
  • Polymerase Chain Reaction
  • Sphingomyelin Phosphodiesterase / deficiency*
  • Sphingomyelin Phosphodiesterase / genetics

Substances

  • DNA
  • Sphingomyelin Phosphodiesterase