Article
Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patients.
Blood - 15 Oct 1992
Levran O, Desnick R J, Schuchman E H
Abstract excerpt
Types A and B Niemann-Pick disease (NPD) result from the deficient activity of acid sphingomyelinase (ASM; E.C. 3.1.4.12) and the resultant lysosomal accumulation of sphingomyelin. Type A disease is a fatal, neurodegenerative disorder of infancy, whereas type B disease has no neurologic manifesta...
Topics
- Base Sequence
- Cell Line
- Codon
- DNA
- Gene Expression
- Humans
- Jews
- Leucine
- Molecular Sequence Data
- Mutation
- Niemann-Pick Diseases
- Nucleic Acid Hybridization
- Pedigree
- Polymerase Chain Reaction
- Proline
- Sphingomyelin Phosphodiesterase
- Transfection