Simultaneous and independent detection of C9ORF72 alleles with low and high number of GGGGCC repeats using an optimised protocol of Southern blot hybridisation.

BACKGROUND: Sizing of GGGGCC hexanucleotide repeat expansions within the C9ORF72 locus, which account for approximately 10% of all amyotrophic lateral sclerosis (ALS) cases, is urgently required to answer fundamental questions about mechanisms of pathogenesis in this important genetic variant. Curr...

Full description

Bibliographic Details
Main Authors: Buchman, V, Cooper-Knock, J, Connor-Robson, N, Higginbottom, A, Kirby, J, Razinskaya, O, Ninkina, N, Shaw, P
Format: Journal article
Language:English
Published: 2013