IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, NEFL
Definition : Molecular assay reagents intended to identify mutations in the neurofilament, light polypeptide 68kDa (NEFL) gene, located at chromosome 8p21, which encodes for a protein component (the light subunit) of neurofilaments. Mutations at this locus have been identified in patients with Charcot-Marie-Tooth disease type 1F and type 2E.
Entry Terms : "Charcot-Marie-Tooth Disease Type 1F (CMT1F) Gene Mutation Reagents" , "Charcot-Marie-Tooth Disease Type 2E (CMT2E) Gene Mutation Reagents" , "Hereditary Neuropathy Gene Mutation Reagents" , "NEFL Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, NEFL"
UMDC code : 24636