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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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| Publié dans: | Brain Pathol |
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| Auteurs principaux: | , , , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Blackwell Publishing Ltd
2006
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| Sujets: | |
| Accès en ligne: | 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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