IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, CRB1
Definition : Molecular assay reagents intended to identify mutations in the crumbs homologue 1 (CRB1) gene, located at chromosome 1q31-q32.1, which encodes for a protein that is involved in photoreceptor morphogenesis in the retina. Mutations at this locus have been identified in patients with infantile early-onset Leber's congenital amaurosis, retinitis pigmentosa, and pigmented paravenous chorioretinal atrophy.
Entry Terms : "Retinitis Pigmentosa Type 12 Gene Mutation Detection Reagents" , "Leber Congenital Amaurosis Gene Mutation Detection Reagents" , "CRB1 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, CRB1"
UMDC code : 24373