Article
Niemann-Pick type B disease. Identification of a single codon deletion in the acid sphingomyelinase gene and genotype/phenotype correlations in type A and B patients.
The Journal of clinical investigation - 1 Sept 1991
Levran O, Desnick R J, Schuchman E H
Abstract excerpt
Types A and B Niemann-Pick disease both result from the deficient activity of the lysosomal hydrolase, acid sphingomyelinase (E.C. 3.1.4.12). Type A Niemann-Pick disease is a severe neurodegenerative disorder of infancy which leads to death by three years of age, whereas Type B disease has a late...
Topics
- Base Sequence
- Chromosome Deletion
- Codon
- Genotype
- Humans
- Molecular Sequence Data
- Mutation
- Niemann-Pick Diseases
- Phenotype
- Sphingomyelin Phosphodiesterase