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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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Detalles Bibliográficos
Autores principales:	Buchman, Vladimir L, Cooper-Knock, Johnathan, Connor-Robson, Natalie, Higginbottom, Adrian, Kirby, Janine, Razinskaya, Olga D, Ninkina, Natalia, Shaw, Pamela J
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2013
Materias:	Methodology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3626718/ https://www.ncbi.nlm.nih.gov/pubmed/23566336 http://dx.doi.org/10.1186/1750-1326-8-12

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