Article
Homozygous presence of the crossover (fusion gene) mutation identified in a type II Gaucher disease fetus: is this analogous to the Gaucher knock-out mouse model?
Biochemical medicine and metabolic biology - 1 Oct 1994
Strasberg P M, Skomorowski M A, Warren I B, Hilson W L, Callahan J W, Clarke J T
Abstract excerpt
Gaucher disease (GD) is an inherited deficiency of beta-glucocerebrosidase (EC 3.1.2.45, gene symbol GBA). In type I GD, the CNS is not involved (nonneuronopathic), whereas in type II GD (acute neuronopathic) CNS involvement is early and rapidly progressive, while in type III GD (subacute neurono...
Topics
- Animals
- Base Sequence
- Cloning, Molecular
- Crossing Over, Genetic
- Disease Models, Animal
- Fetal Death
- Fetal Diseases
- Gaucher Disease
- Genotype
- Homozygote
- Mice
- Mice, Knockout
- Molecular Sequence Data
- Mutation
- Pedigree
- Phenotype
- Polymerase Chain Reaction