HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

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.

AuthorsM Fernández-Burriel, L Peña, J C Ramos, J C Cabrera, M Marti, F Rodríguez-Quiñones, A Chabás
JournalClinical genetics (Clin Genet) Vol. 63 Issue 3 Pg. 235-6 (Mar 2003) ISSN: 0009-9163 [Print] Denmark
PMID12694237 (Publication Type: Letter)
Chemical References
  • DNA Primers
  • Sphingomyelin Phosphodiesterase
Topics
  • Atlantic Islands
  • DNA Primers
  • Electrophoresis, Polyacrylamide Gel
  • Gene Deletion
  • Humans
  • Niemann-Pick Diseases (genetics)
  • Pedigree
  • Sphingomyelin Phosphodiesterase (genetics)

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: