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  • Molecular assay reagents intended to identify mutations in the ceroid-lipofuscinosis, neuronal 3 (CLN3) gene, located at chromosome 16p12.1, which encodes for a polypeptide that may function as a chaperone involved in the folding/unfolding or assembly/disassembly of other proteins, specifically subunit C of the ATP synthase complex. Mutations at this locus have been identified in patients with Batten disease and infantile early-onset neuronal ceroid-lipofuscinoses (NCL) type 3.
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