Home > Specialties > IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, CLN2

IVD Test Reagent/Kits, 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" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, CLN2"

UMDC code : 24344

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