Identification and expression of five mutations in the human acid sphingomyelinase gene causing types A and B Niemann-Pick disease. Molecular evidence for genetic heterogeneity in the neuronopathic and non-neuronopathic forms.
J Biol Chem. 1992 Jun 25;267(18):12552-8.
J Biol Chem. 1992.
PMID: 1618760
Free article.