Identification of an Agrin Mutation that Causes Congenital Myasthenia and Affects Synapse Function
鉴定出一种导致先天性重症肌无力并影响突触功能的Agrin基因突变
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2009.08.015
Ayub, Muhammad; Basit, Sulman; Jelani, Musharraf; Ur Rehman, Fazal; Iqbal, Muhammad; Yasinzai, Masoom; Ahmad, Wasim; Williamson, Robin E; Miller, Fiona Alice; Garber, Kathryn B; Stankiewicz, Pawel; Sen, Partha; Bhatt, Samarth S; Storer, Mekayla; Xia, Zhilian; Bejjani, Bassem A; Ou, Zhishuo; Wiszniewska, Joanna; Driscoll, Daniel J; Maisenbacher, Melissa K; Bolivar, Juan; Bauer, Mislen; Zackai, Elaine H; McDonald-McGinn, Donna; Nowaczyk, Malgorzata MJ; Murray, Mitzi; Hustead, Virginia; Mascotti, Kristin; Schultz, Regina; Hallam, Lavinia; McRae, Duncan; Nicholson, Andrew G; Newbury, Robert; Durham-O'Donnell, Jane; Knight, Gail; Kini, Usha; Shaikh, Tamim H; Martin, Vicki; Tyreman, Matthew; Simonic, Ingrid; Willatt, Lionel; Paterson, Joan; Mehta, Sarju; Jones, Christy W; Rajan, Diana; Fitzgerald, Tomas; Gribble, Susan; Prigmore, Elena; Patel, Ankita; Shaffer, Lisa G; Carter, Nigel P; Cheung, Sau Wai; Langston, Claire; Shaw-Smith, Charles; Huzé, Caroline; Bauché, Stéphanie; Richard, Pascale; Chevessier, Frédéric; Goillot, Evelyne; Gaudon, Karen; Ben Ammar, Asma; Chaboud, Annie; Grosjean, Isabelle; Lecuyer, Heba-Aude; Bernard, Véronique; Rouche, Andrée; Alexandri, Nektaria; Kuntzer, Thierry; Fardeau, Michel; Fournier, Emmanuel; Brancaccio, Andrea; Rüegg, Markus A; Koenig, Jeanine; Eymard, Bruno; Schaeffer, Laurent; Hantaï, Daniel
