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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

   

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Applied Biosystems

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