title: 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.
authors.forename: M
authors.initials: M
authors.lastname: Fernández-Burriel
authors.forename: L
authors.initials: L
authors.lastname: Peña
authors.forename: J C
authors.initials: JC
authors.lastname: Ramos
authors.forename: J C
authors.initials: JC
authors.lastname: Cabrera
authors.forename: M
authors.initials: M
authors.lastname: Marti
authors.forename: F
authors.initials: F
authors.lastname: Rodríguez-Quiñones
authors.forename: A
authors.initials: A
authors.lastname: Chabás
mesh_terms: D001266:Atlantic Islands; D017931:DNA Primers; D004591:Electrophoresis, Polyacrylamide Gel; D017353:Gene Deletion; D006801:Humans; D009542:Niemann-Pick Diseases / Q000235:genetics*; D010375:Pedigree; D013108:Sphingomyelin Phosphodiesterase / Q000235:genetics*
chemical_list: D017931:DNA Primers; D013108:Sphingomyelin Phosphodiesterase