Article
Evidence for population variation in TSC1 and TSC2 gene expression.
BMC medical genetics - 23 Feb 2011
Jentarra Garilyn M, Rice Stephen G, Olfers Shannon, Saffen David, Narayanan Vinodh
Abstract excerpt
BACKGROUND: Tuberous sclerosis complex (TSC) is an autosomal dominant neurogenetic disorder caused by mutations in one of two genes, TSC1 or TSC2, which encode the proteins hamartin and tuberin, respectively 123. Common features of TSC include intractable epilepsy, mental retardation, and autistic features. TSC is associated with specific brain lesions, including cortical tubers, subependymal nodules and...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.