Identification of a 3' acceptor splice site mutation (g2610c) in the acid sphingomyelinase gene of patients with Niemann-Pick disease.
Medical and Molecular Genetics, Mount Sinai School of Medicine, New York, NY 10029.
O
O
Levran
R J
RJ
Desnick
E H
EH
Schuchman
D001483:Base Sequence; D004252:DNA Mutational Analysis; D006801:Humans; D008969:Molecular Sequence Data; D009542:Niemann-Pick Diseases / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012326:RNA Splicing; D013108:Sphingomyelin Phosphodiesterase / Q000235:genetics*
D013108:Sphingomyelin Phosphodiesterase