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Pathology of a mouse mutation in peripheral myelin protein P0 is characteristic of a severe and early onset form of human Charcot-Marie-Tooth type 1B disorder

Mutations in the gene of the peripheral myelin protein zero (P0) give rise to the peripheral neuropathies Charcot-Marie-Tooth type 1B disease (CMT1B), Déjérine-Sottas syndrome, and congenital hypomyelinating neuropathy. To investigate the pathomechanisms of a specific point mutation in the P0 gene,...

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Detalles Bibliográficos
Autores principales: Rünker, Annette E., Kobsar, Igor, Fink, Torsten, Loers, Gabriele, Tilling, Thomas, Putthoff, Peggy, Wessig, Carsten, Martini, Rudolf, Schachner, Melitta
Formato: Texto
Lenguaje:English
Publicado: The Rockefeller University Press 2004
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2172360/
https://www.ncbi.nlm.nih.gov/pubmed/15148307
http://dx.doi.org/10.1083/jcb.200402087