Article
Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.
Neuron - 22 Oct 2014
Smith Bradley N, Ticozzi Nicola, Fallini Claudia, Gkazi Athina Soragia, Topp Simon, Kenna Kevin P, Scotter Emma L, Kost Jason, Keagle Pamela, Miller Jack W, Calini Daniela, Vance Caroline, Danielson Eric W, Troakes Claire, Tiloca Cinzia, Al-Sarraj Safa, Lewis Elizabeth A, King Andrew, Colombrita Claudia, Pensato Viviana, Castellotti Barbara, de Belleroche Jacqueline, Baas Frank, ten Asbroek Anneloor L M A, Sapp Peter C, McKenna-Yasek Diane, McLaughlin Russell L, Polak Meraida, Asress Seneshaw, Esteban-Pérez Jesús, Muñoz-Blanco José Luis, Simpson Michael, van Rheenen Wouter, Diekstra Frank P, Lauria Giuseppe, Duga Stefano, Corti Stefania, Cereda Cristina, Corrado Lucia, Sorarù Gianni, Morrison Karen E, Williams Kelly L, Nicholson Garth A, Blair Ian P, Dion Patrick A, Leblond Claire S, Rouleau Guy A, Hardiman Orla, Veldink Jan H, van den Berg Leonard H, Al-Chalabi Ammar, Pall Hardev, Shaw Pamela J, Turner Martin R, Talbot Kevin, Taroni Franco, García-Redondo Alberto, Wu Zheyang, Glass Jonathan D, Gellera Cinzia, Ratti Antonia, Brown Robert H, Silani Vincenzo, Shaw Christopher E, Landers John E
Abstract excerpt
Exome sequencing is an effective strategy for identifying human disease genes. However, this methodology is difficult in late-onset diseases where limited availability of DNA from informative family members prohibits comprehensive segregation analysis. To overcome this limitation, we performed an...
Read the complete abstract on PubMed