Article
Genetic diagnosis of Gaucher's disease.
Lancet (London, England) - 11 Apr 1992
Mistry P K, Smith S J, Ali M, Hatton C S, McIntyre N, Cox T M
Abstract excerpt
The inherited disorder Gaucher's disease can be caused by various mutations in the glucocerebrosidase gene. Some mutations may be associated with greater severity, and there is a need for methods of gene analysis that would facilitate screening and diagnosis. We have studied the molecular basis o...
Topics
- Adolescent
- Adult
- Base Sequence
- Child, Preschool
- Female
- Gaucher Disease
- Genotype
- Glucosylceramidase
- Humans
- Infant
- Jews
- Male
- Molecular Sequence Data
- Mutation
- Nucleic Acid Amplification Techniques
- Polymerase Chain Reaction