Reagents, Molecular Assay, Gene Anomaly, Mutation, CLN8
Definition : Molecular assay reagents intended to identify mutations in the ceroid-lipofuscinosis neuronal 8 (epilipsy, progressive with mental retardation) (CLN8) gene, located at chromosome 8p23, which encodes for a transmission protein localized primarily in the endoplasmic reticulum. Mutations at this locus have been identified in patients with neuronal ceroid-lipofuscinoses (NCL) type 8, associated with progressive epilepsy with mental retardation.
Entry Terms : "Palmitoyl-Protein Thioesterase 1 (PPT1) Gene Mutation Detection Reagents" , "Ceroid-Lipofuscinose Neuronal Gene Type 8 Mutation Detection Reagents" , "CLN8 Gene Mutation Detection Reagents"
UMDC code : 24348