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.
Fernández-Burriel
M
M
Peña
L
L
Ramos
J C
JC
Cabrera
J C
JC
Marti
M
M
Rodríguez-Quiñones
F
F
Chabás
A
A
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*
D017931:DNA Primers; D013108:Sphingomyelin Phosphodiesterase