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A de novo nonsense mutation of the FUS gene in an apparently familial ALS case
Mutations in C9ORF72, SOD1, TARDBP and FUS genes account for approximately two third of familial cases and 5% of sporadic amyotrophic lateral sclerosis (ALS) cases. We present the first case of an ALS patient carrying a de novo nonsense mutation in exon 14 of the FUS gene (c.1483c>t; p.R495X) in...
Gorde:
| Egile Nagusiak: | , , , , , , , , , |
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| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
2013
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3961545/ https://ncbi.nlm.nih.gov/pubmed/24439481 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.neurobiolaging.2013.12.028 |
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