IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, NF1
Definition : Molecular assay reagents intended to identify mutations in the neurofibromin 1 (NF1) gene, located at chromosome 17q11.2, which encodes for the protein neurofibromin, produced in many cells, including nerve cells (oligodendrocytes and Schwann cells). Neurofibromin acts as a tumor suppressor protein. Mutations at this locus have identified in patients with neurofibromatosis 1 (von Recklinghausen's disease); it is also associated with related diseases including Watson syndrome.
Entry Terms : "Von Recklinghausen Disease Gene Mutation Reagents" , "Watson Disease Gene Mutation Reagents" , "Neurofibriomatosis Type 1 Gene Mutation Reagents" , "NF1 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, NF1"
UMDC code : 24637