Article
Identification and expression of a missense mutation (Y446C) in the acid sphingomyelinase gene from a Japanese patient with type A Niemann-Pick disease.
The Tohoku journal of experimental medicine - 1 Oct 1995
Takahashi T, Suchi M, Sato W, Ten S B, Sakuragawa N, Desnick R J, Schuchman E H, Takada G
Abstract excerpt
Types A and B Niemann-Pick disease (NPD), an autosomal recessive lysosomal storage disorder, are caused by deficiency of acid sphingomyelinase (ASM). The recent identification of mutations in ASM gene causing types A and B NPD has led to the investigation of the phenotypic heterogeneity and the e...
Topics
- Amino Acid Sequence
- Base Sequence
- Cells, Cultured
- Cloning, Molecular
- DNA
- Exons
- Gene Expression
- Humans
- Infant
- Male
- Molecular Sequence Data
- Mutagenesis, Site-Directed
- Mutation
- Niemann-Pick Diseases
- Phenotype
- Polymerase Chain Reaction
- Sphingomyelin Phosphodiesterase