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  • Molecular assay reagents intended to identify mutations in the mucolipin 1 (MCOLN1) gene, located at chromosome 19p13.3-13.2, which encodes a cation channel involved in lysosome exocytosis. Mutations at this locus have been identifed in patients with mucolipidosis type IV, a lysosomal storage disorder with an early onset on infants.
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