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Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype

Rutherford, Nicola J et al.
eScholarship · Papers
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Expansions of the noncoding GGGGCC hexanucleotide repeat in the Chromosome 9 open reading frame 72 (C9ORF72) gene cause frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). In this study we aimed to determine whether the length of the normal-unexpanded-allele of the GGGGCC repeat i
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