Reagents, Molecular Assay, Gene Anomaly, Mutation, CLN6
Definition : Molecular assay reagents intended to identify mutations in the ceroid-lipofuscinosis neuronal 6, late infantile, variant (CLN6) gene, located at chromosome 15q23, whose function is not well known. Mutations at this locus have been identified in patients with a variant of infantile late-onset neuronal ceroid-lipofuscinoses (NCL) type 6.
Entry Terms : "Palmitoyl-Protein Thioesterase 1 (PPT1) Gene Mutation Detection Reagents" , "CLN6 Gene Mutation Detection Reagents"
UMDC code : 24347