Article
Niemann-Pick disease: mutation update, genotype/phenotype correlations, and prospects for genetic testing.
Genetic testing - 1 Jan 1997
Schuchman E H, Miranda S R
Abstract excerpt
Niemann-Pick Disease (NPD) is an autosomal recessive lysosomal storage disorder caused by a deficiency of acid sphingomyelinase (ASM). NPD occurs in two forms, neuronopathic Type A and nonneuronopathic Type B. The incidence of Type A NPD is highest among Ashkenazi Jews. Type B NPD is more common in non-Jews but has been reported in Ashkenazi Jews. Different mutations in ASM are presumed to be responsible for the...
Topics
- Base Sequence
- DNA Primers
- Female
- Gene Frequency
- Genetic Carrier Screening
- Genetic Testing
- Genotype
- Humans
- Jews
- Male
- Mutation
- Niemann-Pick Diseases