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  • 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.
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