Two new mutations in the acid sphingomyelinase gene causing type a Niemann-pick disease: N389T and R441X.
Schuchman
E H
EH
Department of Human Genetics, Mount Sinai School of Medicine, New York, New York 10029, USA.
D000483:Alleles; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D009542:Niemann-Pick Diseases / Q000235:genetics*; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D013108:Sphingomyelin Phosphodiesterase / Q000235:genetics*
D013108:Sphingomyelin Phosphodiesterase