The R608del mutation in the acid sphingomyelinase gene (SMPD1) is the most prevalent among patients from Gran Canaria Island with Niemann-Pick disease type B

Clin Genet. 2003 Mar;63(3):235-6. doi: 10.1034/j.1399-0004.2003.00025.x.
No abstract available

Publication types

  • Letter

MeSH terms

  • Atlantic Islands
  • DNA Primers
  • Electrophoresis, Polyacrylamide Gel
  • Gene Deletion
  • Humans
  • Niemann-Pick Diseases / genetics*
  • Pedigree
  • Sphingomyelin Phosphodiesterase / genetics*


  • DNA Primers
  • Sphingomyelin Phosphodiesterase