Journal article
Simultaneous and independent detection of C9ORF72 alleles with low and high number of GGGGCC repeats using an optimised protocol of Southern blot hybridisation.
- Abstract:
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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
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Bibliographic Details
- Journal:
- Molecular neurodegeneration
- Volume:
- 8
- Issue:
- 1
- Pages:
- 12
- Publication date:
- 2013-01-01
- DOI:
- EISSN:
-
1750-1326
- URN:
-
uuid:137205c0-0468-4e52-94bd-e14dc81f196c
- Source identifiers:
-
492369
- Local pid:
- pubs:492369
Item Description
- Language:
- English
- Keywords:
Terms of use
- Copyright date:
- 2013
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