Article
A PCR-based protocol to accurately size C9orf72 intermediate-length alleles.
Molecular and cellular probes - 1 Apr 2017
Biasiotto Giorgio, Archetti Silvana, Di Lorenzo Diego, Merola Francesca, Paiardi Giulia, Borroni Barbara, Alberici Antonella, Padovani Alessandro, Filosto Massimiliano, Bonvicini Cristian, Caimi Luigi, Zanella Isabella
Abstract excerpt
Although large expansions of the non-coding GGGGCC repeat in C9orf72 gene are clearly defined as pathogenic for Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Lobar Degeneration (FTLD), intermediate-length expansions have also been associated with those and other neurodegenerative diseases. Intermediate-length allele sizing is complicated by intrinsic properties of current PCR-based methodologies, in that...
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