Exome sequencing reveals VCP mutations as a cause of familial ALS

Using exome sequencing, we identified a p.R191Q amino acid change in the valosin-containing protein (VCP) gene in an Italian family with autosomal dominantly inherited amyotrophic lateral sclerosis (ALS). Mutations in VCP have previously been identified in families with Inclusion Body Myopathy, Page...

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Detalhes bibliográficos
Main Authors: Johnson, Janel O., Mandrioli, Jessica, Benatar, Michael, Abramzon, Yevgeniya, Van Deerlin, Vivianna M., Trojanowski, John Q., Gibbs, J Raphael, Brunetti, Maura, Gronka, Susan, Wuu, Joanne, Ding, Jinhui, McCluskey, Leo, Martinez-Lage, Maria, Falcone, Dana, Hernandez, Dena G., Arepalli, Sampath, Chong, Sean, Schymick, Jennifer C., Rothstein, Jeffrey, Landi, Francesco, Wang, Michael, Calvo, Andrea, Mora, Gabriele, Sabatelli, Mario, Monsurrò, Maria Rosaria, Battistini, Stefania, Salvi, Fabrizio, Spataro, Rossella, Sola, Patrizia, Borghero, Giuseppe, Galassi, Giuliana, Scholz, Sonja W., Taylor, J. Paul, Restagno, Gabriella, Chiò, Adriano, Traynor, Bryan J.
Formato: Artigo
Idioma:Inglês
Publicado em: 2010
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3032425/
https://ncbi.nlm.nih.gov/pubmed/21145000
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.neuron.2010.11.036
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