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Autor:
Laura Michelle White, Jeremy Boardman, James Lilleker, Amina Chaouch, Haga Kargwell, John Ealing, Hisham Hamdalla
Publikováno v:
Journal of Medical Genetics. :jmg-2022
BackgroundHexanucleotide repeat expansions ofC9ORF72account for a significant proportion of autosomal dominant neurodegenerative diseases in the amyotrophic lateral sclerosis (ALS)–frontotemporal dementia spectrum. In the absence of a family histor