ALS Compendium

Title: A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

Year Published: 2011

Observation: Used NGS to identify a hexanucleotide repeat expansion (GGGGCC) within the C9ORF72 gene as the cause of chromosome 9p21 linked ALS-FTD

Comment: Show that there is a GGGGCC hexanucleotide repeat expansion on the first intron of C9ORF72

Citation: Renton, A. E., Majounie, E., Waite, A., Simón-Sánchez, J., Rollinson, S., Gibbs, J. R., … Traynor, B. J. (2011). A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron, 72(2), 257–68. doi:10.1016/j.neuron.2011.09.010

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