Identification of three novel mutations in the acid sphinogomyelinase gene of Japanese patients with Niemann-Pick disease type A and B

Hum Mutat. 1996;7(1):65-7. doi: 10.1002/(SICI)1098-1004(1996)7:1<65::AID-HUMU10>3.0.CO;2-Q.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Amino Acid Sequence
  • Base Sequence
  • Exons
  • Humans
  • Japan
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Niemann-Pick Diseases / genetics*
  • Point Mutation
  • Polymerase Chain Reaction
  • Sequence Analysis, DNA
  • Sphingomyelin Phosphodiesterase / genetics*

Substances

  • Sphingomyelin Phosphodiesterase