Two new mutations in the acid sphingomyelinase gene causing type a Niemann-pick disease: N389T and R441X

Hum Mutat. 1995;6(4):352-4. doi: 10.1002/humu.1380060412.
No abstract available

Publication types

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

MeSH terms

  • Alleles
  • Humans
  • Infant, Newborn
  • Mutation*
  • Niemann-Pick Diseases / genetics*
  • Polymerase Chain Reaction
  • Sequence Analysis, DNA
  • Sphingomyelin Phosphodiesterase / genetics*

Substances

  • Sphingomyelin Phosphodiesterase