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

Motor neuron degeneration in amyotrophic lateral sclerosis (ALS) has a familial cause in 10% of patients. Despite significant advances in the genetics of the disease, many families remain unexplained. We performed whole-genome sequencing in five family members from a pedigree with autosomal-dominant...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2012
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Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3349421/
https://www.ncbi.nlm.nih.gov/pubmed/22343411
http://dx.doi.org/10.1093/hmg/dds055

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