Home > Specialties > IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, CLN5

IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, CLN5

Definition : Molecular assay reagents intended to identify mutations in the ceroid-lipofuscinosis neuronal 5 (CLN5) gene, located at chromosome 13q21.1-q32, whose function is uncertain but has been associated with a putative lysosomal membrane protein. Mutations at this locus have been identified in patients with neuronal ceroid-lipofuscinoses (NCL) type 5.

Entry Terms : "Palmitoyl-Protein Thioesterase 1 (PPT1) Gene Mutation Detection Reagents" , "CLN5 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, CLN5"

UMDC code : 24346

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