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.2009.06.015
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