A novel missense mutation of the SMPD1 gene in a Taiwanese patient with type B Niemann-Pick disease

Ann Hematol. 2009 Jul;88(7):695-7. doi: 10.1007/s00277-008-0648-8. Epub 2008 Dec 3.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Bone Marrow Examination
  • Exons
  • Humans
  • Male
  • Mutation, Missense*
  • Niemann-Pick Disease, Type B / genetics*
  • Niemann-Pick Disease, Type B / pathology
  • Point Mutation
  • Sphingomyelin Phosphodiesterase / genetics*
  • Taiwan

Substances

  • Sphingomyelin Phosphodiesterase