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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.

Abstract:

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. Currently employed PCR protocols are limited to discrimination between the presence and absence of a modified allele with more than 30 copies of the repeat, while Southern hybridisation-based methods a...

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Publisher copy:
10.1186/1750-1326-8-12

Authors


Buchman, VL More by this author
Cooper-Knock, J More by this author
Connor-Robson, N More by this author
Higginbottom, A More by this author
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Journal:
Molecular neurodegeneration
Volume:
8
Issue:
1
Pages:
12
Publication date:
2013
DOI:
EISSN:
1750-1326
URN:
uuid:137205c0-0468-4e52-94bd-e14dc81f196c
Source identifiers:
492369
Local pid:
pubs:492369

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