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C9orf72 hexanucleotide repeat allele tagging SNPs: Associations with ALS risk and longevity

C9orf72 hexanucleotide repeat expansion is a common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The C9orf72 locus may harbor residual risk outside the hexanucleotide repeat expansion, but the evidence is conflicting. Here, we first compared 683 unrelated amyotroph...

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Detalles Bibliográficos
Autores principales: Kaivola, Karri, Pirinen, Matti, Laaksovirta, Hannu, Jansson, Lilja, Rautila, Osma, Launes, Jyrki, Hokkanen, Laura, Lahti, Jari, Eriksson, Johan G., Strandberg, Timo E., FinnGen, Tienari, Pentti J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10014923/
https://www.ncbi.nlm.nih.gov/pubmed/36936421
http://dx.doi.org/10.3389/fgene.2023.1087098