dc.contributor.author | Bladen, Catherine L | |
dc.contributor.author | Salgado, David | |
dc.contributor.author | Monges, Soledad | |
dc.contributor.author | Foncuberta, Maria E | |
dc.contributor.author | Kekou, Kyriaki | |
dc.contributor.author | Kosma, Konstantina | |
dc.contributor.author | Dawkins, Hugh | |
dc.contributor.author | Lamont, Leanne | |
dc.contributor.author | Roy, Anna J | |
dc.contributor.author | Chamova, Teodora | |
dc.contributor.author | Guergueltcheva, Velina | |
dc.contributor.author | Chan, Sophelia | |
dc.contributor.author | Korngut, Lawrence | |
dc.contributor.author | Campbell, Craig | |
dc.contributor.author | Dai, Yi | |
dc.contributor.author | Wang, Jen | |
dc.contributor.author | Barišić, Nina | |
dc.contributor.author | Brabec, Petr | |
dc.contributor.author | Lahdetie, Jaana | |
dc.contributor.author | Walter, Maggie C | |
dc.contributor.author | Schreiber-Katz, Olivia | |
dc.contributor.author | Karcagi, Veronika | |
dc.contributor.author | Garami, Marta | |
dc.contributor.author | Viswanathan, Venkatarman | |
dc.contributor.author | Bayat, Farhad | |
dc.contributor.author | Buccella, Filippo | |
dc.contributor.author | Kimura, En | |
dc.contributor.author | Koeks, Zaïda | |
dc.contributor.author | van den Bergen, Janneke C | |
dc.contributor.author | Rodrigues, Miriam | |
dc.contributor.author | Roxburgh, Richard | |
dc.contributor.author | Lusakowska, Anna | |
dc.contributor.author | Kostera-Pruszczyk, Anna | |
dc.contributor.author | Zimowski, Janusz | |
dc.contributor.author | Santos, Rosário | |
dc.contributor.author | Neagu, Elena | |
dc.contributor.author | Artemieva, Svetlana | |
dc.contributor.author | Rasic, Vedrana Milic | |
dc.contributor.author | Vojinovic, Dina | |
dc.contributor.author | Posada, Manuel | |
dc.contributor.author | Bloetzer, Clemens | |
dc.contributor.author | Jeannet, Pierre-Yves | |
dc.contributor.author | Joncourt, Franziska | |
dc.contributor.author | Díaz-Manera, Jordi | |
dc.contributor.author | Gallardo, Eduard | |
dc.contributor.author | Karaduman, A Ayşe | |
dc.contributor.author | Topaloğlu, Haluk | |
dc.contributor.author | El Sherif, Rasha | |
dc.contributor.author | Stringer, Angela | |
dc.contributor.author | Shatillo, Andriy V | |
dc.contributor.author | Martin, Ann S | |
dc.contributor.author | Peay, Holly L | |
dc.contributor.author | Bellgard, Matthew I | |
dc.contributor.author | Kirschner, Jan | |
dc.contributor.author | Flanigan, Kevin M | |
dc.contributor.author | Straub, Volker | |
dc.contributor.author | Bushby, Kate | |
dc.contributor.author | Verschuuren, Jan | |
dc.contributor.author | Aartsma-Rus, Annemieke | |
dc.contributor.author | Béroud, Christophe | |
dc.contributor.author | Lochmüller, Hanns | |
dc.date.accessioned | 2019-12-10T10:51:47Z | |
dc.date.available | 2019-12-10T10:51:47Z | |
dc.date.issued | 2015 | |
dc.identifier.issn | 1059-7794 | |
dc.identifier.uri | https://doi.org/10.1002/humu.22758 | |
dc.identifier.uri | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4405042/ | |
dc.identifier.uri | http://hdl.handle.net/11655/14477 | |
dc.description.abstract | 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 Global database (http://umd.be/TREAT_DMD/). We analyzed genetic data for 7,149 DMD mutations held within the database. A total of 5,682 large mutations were observed (80% of total mutations), of which 4,894 (86%) were deletions (1 exon or larger) and 784 (14%) were duplications (1 exon or larger). There were 1,445 small mutations (smaller than 1 exon, 20% of all mutations), of which 358 (25%) were small deletions and 132 (9%) small insertions and 199 (14%) affected the splice sites. Point mutations totalled 756 (52% of small mutations) with 726 (50%) nonsense mutations and 30 (2%) missense mutations. Finally, 22 (0.3%) mid-intronic mutations were observed. In addition, mutations were identified within the database that would potentially benefit from novel genetic therapies for DMD including stop codon read-through therapies (10% of total mutations) and exon skipping therapy (80% of deletions and 55% of total mutations). | |
dc.relation.isversionof | 10.1002/humu.22758 | |
dc.rights | info:eu-repo/semantics/openAccess | |
dc.title | The Treat-Nmd Dmd Global Database: Analysis Of More Than 7,000 Duchenne Muscular Dystrophy Mutations | |
dc.type | info:eu-repo/semantics/article | |
dc.type | info:eu-repo/semantics/publishedVersion | |
dc.relation.journal | Human Mutation | |
dc.contributor.department | Çocuk Sağlığı ve Hastalıkları | |
dc.identifier.volume | 36 | |
dc.identifier.issue | 4 | |
dc.identifier.startpage | 395 | |
dc.identifier.endpage | 402 | |
dc.description.index | PubMed | |
dc.description.index | WoS | |