Comprehensive genotyping of the C9orf72 hexanucleotide repeat region in 2095 ALS samples from the NINDS collection using a two-mode, long-read PCR assay.

@article{Bram2019ComprehensiveGO,
  title={Comprehensive genotyping of the C9orf72 hexanucleotide repeat region in 2095 ALS samples from the NINDS collection using a two-mode, long-read PCR assay.},
  author={Eran Bram and Kamyab Javanmardi and Kimberly Nicholson and Kristen Culp and Julie R. Thibert and Jukka Kemppainen and Vivian Le and Annette M Schlageter and Andrew Hadd and Gary J. Latham},
  journal={Amyotrophic lateral sclerosis & frontotemporal degeneration},
  year={2019},
  volume={20 1-2},
  pages={
          107-114
        }
}
OBJECTIVE Expansion of the G4C2 repeat tract in the C9orf72 gene is linked to frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Here, we provide comprehensive genotyping of the C9orf72 repeat region for the National Institute of Neurological Disorders and Stroke (NINDS) ALS collection (n = 2095), using a novel bimodal PCR assay capable of amplifying nearly 100% GC-rich sequences. METHODS A single-tube 3-primer PCR assay mode, resolved using capillary electrophoresis, was… CONTINUE READING
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