IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, TSC1
Definition : Molecular assay reagents intended to identify mutations in the tripeptidyl peptidase I (TPP1) gene, located at chromosome 11p15, which encodes for an enzyme that acts as a nonspecific lysosomal peptidase. This inherited genetic mutation has been identified in patients with neuronal ceroid-lipofuscinosis (NCL).
Entry Terms : "Dysplasia Gene Mutation Reagents" , "Cortical Dysplasia Gene Mutation Reagents" , "Tuberous Sclerosis Type 1 (TSC1) Gene Mutation Reagents" , "TSC1 Gene Muation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, TSC1"
UMDC code : 24997