IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, TSC2
Definition : Molecular assay reagents intended to identify mutations in the tuberous sclerosis 1 (TSC1) gene, located at chromosome 9q34, which is implicated as a tumor suppressor. This inherited genetic mutation has been identified in patients with tuberous sclerosis type 1; it is also associated with focal cortical dysplasia of Taylor balloon cell subtype (epilepsy-associated) and lymphangiomyomatosis in females.
Entry Terms : "Lymphangiomyomatosis Gene Mutation Reagents" , "Tuberous Sclerosis Type 2 (TSC2) Gene Mutation Reagents" , "TSC2 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, TSC2"
UMDC code : 24998