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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Detaylı Bibliyografya
Yayımlandı:Brain Pathol
Asıl Yazarlar: Leung, Conrad L., He, Cui Zhen, Kaufmann, Petra, Chin, Steven S., Naini, Ali, Liem, Ronald K. H., Mitsumoto, Hiroshi, Hays, Arthur P.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Blackwell Publishing Ltd 2006
Konular:
Research Article
Online Erişim: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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