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Carriership of two copies of C9orf72 hexanucleotide repeat intermediate-length alleles is a risk factor for ALS in the Finnish population
The hexanucleotide repeat expansion in intron 1 of the C9orf72 gene causes amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. In addition to the effects of the pathogenic expansion, a role of intermediate-length alleles has been suggested in ALS, corticobasal degeneration and Parkinson...
Autores principales: | Kaivola, Karri, Salmi, Samuli J., Jansson, Lilja, Launes, Jyrki, Hokkanen, Laura, Niemi, Anna-Kaisa, Majamaa, Kari, Lahti, Jari, Eriksson, Johan G., Strandberg, Timo, Laaksovirta, Hannu, Tienari, Pentti J. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7654028/ https://www.ncbi.nlm.nih.gov/pubmed/33168078 http://dx.doi.org/10.1186/s40478-020-01059-5 |
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