Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosis

Author: Herdewyn Sarah   Zhao Hui   Moisse Matthieu   Race Valérie   Matthijs Gert   Reumers Joke   Kusters Benno   Schelhaas Helenius J.   van den Berg Leonard H.   Goris An   Robberecht Wim   Lambrechts Diether   Van Damme Philip  

Publisher: Oxford University Press

ISSN: 1460-2083

Source: Human Molecular Genetics, Vol.21, Iss.11, 2012-06, pp. : 2412-2419

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Abstract