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  • Molecular assay reagents intended to identify mutations in the oculocerebrorenal syndrome of Lowe (OCRL) gene, located at chromosome Xq26.1, which encodes for an enzyme that helps modify membrane phospholipids known as phosphoinositides. Mutations at this locus have been identified in male patients with early-onset (newborn) Lowe syndrome; carrier females develop opacities in the eye lens that may progress to cataracts.
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