Article
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.
The Journal of biological chemistry - 25 Jun 1992
Takahashi T, Suchi M, Desnick R J, Takada G, Schuchman E H
Abstract excerpt
The deficient activity of the human lysosomal hydrolase, acid sphingomyelinase (ASM, EC 3.1.4.12), results in the neuronopathic (Type A) and non-neuronopathic (Type B) forms of Niemann-Pick disease (NPD). To investigate the genetic basis of the phenotypic heterogeneity in NPD, the molecular lesions in the ASM gene were determined from three unrelated NPD patients and evaluated by transient expression in COS-1...
Topics
- Adolescent
- Adult
- Amino Acid Sequence
- Base Sequence
- Cell Line
- Child, Preschool
- DNA
- Female
- Humans
- Male
- Molecular Sequence Data