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A blinded international study on the reliability of genetic testing for GGGGCC-...

Akimoto, Chizuru; Volk, Alexander E.; van Blitterswijk, Marka; Van den Broeck, Marleen; Leblond, Claire S.; Lumbroso, Serge; Camu, William

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 1...

Date: 2014   |   Origin: Repositório da Universidade de Lisboa
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