Article
The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations.
Human mutation - 1 Apr 2015
Bladen Catherine L, Salgado David, Monges Soledad, Foncuberta Maria E, Kekou Kyriaki, Kosma Konstantina, Dawkins Hugh, Lamont Leanne, Roy Anna J, Chamova Teodora, Guergueltcheva Velina, Chan Sophelia, Korngut Lawrence, Campbell Craig, Dai Yi, Wang Jen, Barišić Nina, Brabec Petr, Lahdetie Jaana, Walter Maggie C, Schreiber-Katz Olivia, Karcagi Veronika, Garami Marta, Viswanathan Venkatarman, Bayat Farhad, Buccella Filippo, Kimura En, Koeks Zaïda, van den Bergen Janneke C, Rodrigues Miriam, Roxburgh Richard, Lusakowska Anna, Kostera-Pruszczyk Anna, Zimowski Janusz, Santos Rosário, Neagu Elena, Artemieva Svetlana, Rasic Vedrana Milic, Vojinovic Dina, Posada Manuel, Bloetzer Clemens, Jeannet Pierre-Yves, Joncourt Franziska, Díaz-Manera Jordi, Gallardo Eduard, Karaduman A Ayşe, Topaloğlu Haluk, El Sherif Rasha, Stringer Angela, Shatillo Andriy V, Martin Ann S, Peay Holly L, Bellgard Matthew I, Kirschner Jan, Flanigan Kevin M, Straub Volker, Bushby Kate, Verschuuren Jan, Aartsma-Rus Annemieke, Béroud Christophe, Lochmüller Hanns
Abstract excerpt
Analyzing the type and frequency of patient-specific mutations that give rise to Duchenne muscular dystrophy (DMD) is an invaluable tool for diagnostics, basic scientific research, trial planning, and improved clinical care. Locus-specific databases allow for the collection, organization, storage, and analysis of genetic variants of disease. Here, we describe the development and analysis of the TREAT-NMD DMD...
Topics
- Databases, Genetic
- Dystrophin
- Humans
- Muscular Dystrophy, Duchenne