Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann-Pick disease

Hum Mutat. 1992;1(1):70-1. doi: 10.1002/humu.1380010111.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Amino Acid Sequence
  • Arginine
  • Base Sequence
  • Cells, Cultured
  • DNA / genetics
  • DNA / isolation & purification
  • Female
  • Humans
  • Japan / ethnology
  • Lymphocytes / enzymology
  • Molecular Sequence Data
  • Mutation*
  • Niemann-Pick Diseases / enzymology
  • Niemann-Pick Diseases / genetics*
  • Oligodeoxyribonucleotides
  • Pedigree
  • Polymerase Chain Reaction
  • Serine
  • Sphingomyelin Phosphodiesterase / genetics*

Substances

  • Oligodeoxyribonucleotides
  • Serine
  • DNA
  • Arginine
  • Sphingomyelin Phosphodiesterase