IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, NBN
Definition : Molecular assay reagents intended to identify mutations in the Nijmegen breakage syndrome 1 (nibrin) (NBN) gene, located at chromosome 8q21, which encodes for the protein nibrin that is involved in several critical cellular functions, including the repair of damaged DNA. Mutations at this locus have been identified in patients with Nijmegen breakage syndrome type 1, aplastic anemia, and acute lymphoblastic leukemia (ALL).
Entry Terms : "Ataxia-Telangiectasia Type 1 Gene Mutation Reagents" , "Seemanova Syndrome Gene Mutation Reagents" , "Berlin Breakage Syndrome Gene Mutation Reagents" , "Nijmegen Breakage Syndrome Type 1 (NBN) Gene Mutation Reagents" , "NBN Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, NBN"
UMDC code : 24634