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The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations.

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第一作者： Catherine L,Bladen

第一单位： The John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases Institute of Genetic Medicine, University of Newcastle, Central Parkway, Newcastle upon Tyne, UK.

作者： Catherine L,Bladen ^[1] ; David,Salgado ; Soledad,Monges ; Maria E,Foncuberta ; Kyriaki,Kekou ; Konstantina,Kosma ; Hugh,Dawkins ; Leanne,Lamont ; Anna J,Roy ; Teodora,Chamova ; Velina,Guergueltcheva ; Sophelia,Chan ; Lawrence,Korngut ; Craig,Campbell ; Yi,Dai ; Jen,Wang ; Nina,Barišić ; Petr,Brabec ; Jaana,Lahdetie ; Maggie C,Walter ; Olivia,Schreiber-Katz ; Veronika,Karcagi ; Marta,Garami ; Venkatarman,Viswanathan ; Farhad,Bayat ; Filippo,Buccella ; En,Kimura ; Zaïda,Koeks ; Janneke C,van den Bergen ; Miriam,Rodrigues ; Richard,Roxburgh ; Anna,Lusakowska ; Anna,Kostera-Pruszczyk ; Janusz,Zimowski ; Rosário,Santos ; Elena,Neagu ; Svetlana,Artemieva ; Vedrana Milic,Rasic ; Dina,Vojinovic ; Manuel,Posada ; Clemens,Bloetzer ; Pierre-Yves,Jeannet ; Franziska,Joncourt ; Jordi,Díaz-Manera ; Eduard,Gallardo ; A Ayşe,Karaduman ; Haluk,Topaloğlu ; Rasha,El Sherif ; Angela,Stringer ; Andriy V,Shatillo ; Ann S,Martin ; Holly L,Peay ; Matthew I,Bellgard ; Jan,Kirschner ; Kevin M,Flanigan ; Volker,Straub ; Kate,Bushby ; Jan,Verschuuren ; Annemieke,Aartsma-Rus ; Christophe,Béroud ; Hanns,Lochmüller

作者单位： The John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases Institute of Genetic Medicine, University of Newcastle, Central Parkway, Newcastle upon Tyne, UK. ^[1]

关键词 DMD Duchenne muscular dystrophy TREAT-NMD rare disease registries

医学主题词数据库, 遗传学(Databases, Genetic);肌营养不良蛋白(Dystrophin);人类(Humans);肌营养不良, 杜氏(Muscular Dystrophy, Duchenne);突变(Mutation);登记(Registries)

DOI 10.1002/humu.22758

PMID 25604253

发布时间 2025-05-29

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