Reagents, Molecular Assay, Gene Anomaly, Mutation, CLN1
Definition : Molecular assay reagents intended to identify mutations in the ceroid-lipofuscinosis, neuronal 1(CLN1) gene, located at chromosome 1p32, which encodes for nonspecific lysosomal peptidase that generates tripeptides. Mutations at this locus have been identified in patients with neuronal ceroid-lipofuscinoses (NCL) diseases.
Entry Terms : "Neuronal Ceroid-Lipofuscinoses (NCL) Gene Mutation Detection Reagents" , "Palmitoyl-Protein Thioesterase 1 (PPT1) Gene Mutation Detection Reagents" , "CLN1 Gene Mutation Detection Reagents"
UMDC code : 24343