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. Curre...

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Autors principals: Buchman, Vladimir L, Cooper-Knock, Johnathan, Connor-Robson, Natalie, Higginbottom, Adrian, Kirby, Janine, Razinskaya, Olga D, Ninkina, Natalia, Shaw, Pamela J
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2013
Matèries:
Methodology
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3626718/
https://ncbi.nlm.nih.gov/pubmed/23566336
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1326-8-12
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