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...

Ful tanımlama

Kaydedildi:
Detaylı Bibliyografya
Asıl Yazarlar: 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.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2010
Konular:
Article
Online Erişim: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
Etiketler: Etiketle
Etiket eklenmemiş, İlk siz ekleyin!

Benzer Materyaller