Reagents, Molecular Assay, Gene Anomaly, Mutation, CMT
Definition : Molecular assay reagents intended to identify mutations in Charcot-Marie-Tooth neuropathy 1B (CMT1B) gene (also known as the myelin protein zero gene [MPZ]), located at chromosome 1q22, which encodes for myelin protein zero, a major structural protein of peripheral myelin. Mutations at this locus have been identified in patients with various forms of hereditary mutant sensory neuropathy (HMSN1-3), such as Charcot-Marie-Tooth disease.
Entry Terms : "Themyelin Protein Zero (MPZ) Gene Mutation Detection Reagents" , "CMT Gene Mutation Detection Reagents"
UMDC code : 24349