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A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories

Abstract:

Background The GGGGCC-repeat expansion in C9orf72 is the most frequent mutation found in patients with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Most of the studies on C9orf72 have relied on repeat-primed PCR (RP-PCR) methods for detection of the expansions. To investigate the inherent limitations of this technique, we compared methods and results of 14 laboratories. Methods The 14 laboratories genotyped DNA from 78 individuals (diagnosed with ALS or FTD) in a bli...

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Authors


Akimoto, C More by this author
van Blitterswijk, M More by this author
Van den Broeck, M More by this author
Van den Broeck, M More by this author
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Journal:
Journal of Medical Genetics
Volume:
51
Issue:
6
Pages:
419-424
Publication date:
2014
DOI:
EISSN:
1468-6244
ISSN:
0022-2593
URN:
uuid:6a7ad61d-a3c0-4489-9630-5d0aa3af9cbb
Source identifiers:
469149
Local pid:
pubs:469149

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