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Novel mutations support a role for Profilin 1 in the pathogenesis of ALS
Mutations in the gene encoding profilin 1 (PFN1) have recently been shown to cause amyotrophic lateral sclerosis (ALS), a fatal neurodegenerative disorder. We sequenced the PFN1 gene in a cohort of ALS patients (n = 485) and detected 2 novel variants (A20T and Q139L), as well as 4 cases with the pre...
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Publié dans: | Neurobiol Aging |
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Auteurs principaux: | , , , , , , , , , , , , , , , , , |
Format: | Artigo |
Langue: | Inglês |
Publié: |
Elsevier
2015
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Sujets: | |
Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4357530/ https://ncbi.nlm.nih.gov/pubmed/25499087 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.neurobiolaging.2014.10.032 |
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