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 neuronopathic) CNS involvement occurs later and is slowly progressive. The T6433C (L444P) substitution is prevalent in type GD...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.