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Reagents, Molecular Assay, Gene Anomaly, Mutation, AIPL1

Definition : 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.

Entry Terms : "Retinitis Pigmentosa Gene Mutation Detection Reagents" , "Leber Congenital Amaurosis Gene Mutation Detection Reagents" , "AIPL1 Gene Mutation Detection Reagents"

UMDC code : 24283

   

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