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...

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Detalles Bibliográficos
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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
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

Internet

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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