Home > Specialties > IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, CLN6

IVD Test Reagent/Kits, 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" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, CLN6"

UMDC code : 24347

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