- Two new mutations in the acid sphingomyelinase gene causing type a Niemann-pick disease: N389T and R441X.
Two new mutations in the acid sphingomyelinase gene causing type a Niemann-pick disease: N389T and R441X.
Human mutation (1995-01-01)
E H Schuchman
PMID8680412
MATERIALS
Product Number
Brand
Product Description
Sigma-Aldrich
Sphingomyelinase from Staphylococcus aureus, buffered aqueous glycerol solution, 100-300 units/mg protein (Lowry)
Sigma-Aldrich
Sphingomyelinase from Bacillus cereus, buffered aqueous glycerol solution, ≥100 units/mg protein (Lowry)