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  • Molecular assay reagents intended to identify mutations in the aryl hydrocarbon receptor interacting protein-like 1 (AIPL1) gene, located at chromosome 17p13.1, which appears to be involved in protein trafficking and or protein folding and stabilization. Mutations at this locus have been identified in patients with Leber\'s congenital amaurosis, an early-onset disease, and also in a pigmentary retinopathy similar to retinitis pigmentosa.
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