Article
In silico and functional studies of the regulation of the glucocerebrosidase gene.
Molecular genetics and metabolism - 1 Mar 2010
Blech-Hermoni Yotam N, Ziegler Shira G, Hruska Kathleen S, Stubblefield Barbara K, Lamarca Mary E, Portnoy Matthew E, Green Eric D, Sidransky Ellen
Abstract excerpt
In Gaucher disease (GD), the inherited deficiency of glucocerebrosidase results in the accumulation of glucocerebroside within lysosomes. Although almost 300 mutations in the glucocerebrosidase gene (GBA) have been identified, the ability to predict phenotype from genotype is quite limited. In th...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.