Reagents, Molecular Assay, Gene Anomaly, Mutation, CNGB1
Definition : Molecular assay reagents intended to identify mutations in the cyclic nucleotide gated channel beta 1 (CNGB1) gene, located at chromosome 16q13, which encodes for cyclic guanine nucleotide-gated channel (cGMP) rod photoreceptor that plays a role in photoreceptor cell generation. Mutations at this locus have been identified in patients with retinitis pigmentosa.
Entry Terms : "Retinitis Pigmentosa Gene Mutation Detection Reagents" , "CNGB1 Gene Mutation Detection Reagents"
UMDC code : 24351