Article
Genotype-phenotype pitfalls in Gaucher disease.
Journal of clinical laboratory analysis - 1 Jan 1994
Strasberg P M, Triggs-Raine B L, Warren I B, Skomorowski M A, McInnes B, Becker L E, Callahan J W, Clarke J T
Abstract excerpt
Gaucher disease (GD), caused by inherited deficiency of beta-glucocerebrosidase (beta-Glc, EC 3.1.2.45), is classified type I if the CNS is not involved (non-neuronopathic), type II if CNS involvement is early and rapidly progressive (acute neuronopathic), and type III if CNS involvement occurs later and is slowly progressive (subacute neuronopathic). The clinical course is not predictable by measurement of...
Topics
- Base Sequence
- Child, Preschool
- Gaucher Disease
- Genotype
- Humans
- Male
- Molecular Sequence Data
- Phenotype
- Point Mutation