Reagents, Molecular Assay, Gene Anomaly, Mutation, CLN2
Definition : Molecular assay reagents intended to identify mutations in the ceroid-lipofuscinosis, neuronal 2 (CLN2) gene, located at chromosome 11p15, which encodes for nonspecific lysosomal peptidase that generates tripeptides. Mutations at this locus have been identified in patients with infantile late-onset neuronal ceroid-lipofuscinoses (NCL) type 2.
Entry Terms : "Palmitoyl-Protein Thioesterase 1 (PPT1) Gene Mutation Detection Reagents" , "CLN2 Gene Mutation Detection Reagents"
UMDC code : 24344