Article
Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies.
Human mutation - 1 Jan 1999
Nelis E, Haites N, Van Broeckhoven C
Abstract excerpt
The peripheral myelin protein 22 gene (PMP22), the myelin protein zero gene (MPZ, P0), and the connexin 32 gene (Cx32, GJB1) code for membrane proteins expressed in Schwann cells of the peripheral nervous system (PNS). The early growth response 2 gene (EGR2) encodes a transcription factor that may control myelination in the PNS. Mutations in the respective genes, located on human chromosomes 17p11.2, 1q22-q23,...
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