IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, RPGRIP1
Definition : Molecular assay reagents intended to identify mutations in the retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1) gene, located at chromosome 14q11, which encodes for a protein involved in normal disk morphogenesis. These genetic mutations have been identified in patients with Leber's congenital amaurosis.
Entry Terms : "Cone-Rod Dystrophy Gene Mutation Reagents" , "Leber Congenital Amaurosis Gene Mutation Reagents" , "Retinitis Pigmentosa Gene Mutation Reagents" , "RPGRIP1 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, RPGRIP1"
UMDC code : 24943