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A Pathogenic Peripherin Gene Mutation in a Patient with Amyotrophic Lateral Sclerosis

Peripherin is a neuronal intermediate filament protein that is expressed chiefly in motor neurons and other nerve cells that project into the peripheral nervous system. Transgenic mice that over‐express peripherin develop motor neuron degeneration, suggesting that mutations in peripherin could contr...

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Detalles Bibliográficos
Publicado en:Brain Pathol
Main Authors: Leung, Conrad L., He, Cui Zhen, Kaufmann, Petra, Chin, Steven S., Naini, Ali, Liem, Ronald K. H., Mitsumoto, Hiroshi, Hays, Arthur P.
Formato: Artigo
Idioma:Inglês
Publicado: Blackwell Publishing Ltd 2006
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC8095763/
https://ncbi.nlm.nih.gov/pubmed/15446584
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1750-3639.2004.tb00066.x
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