Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase

著者: Michael A. Simpson, J. Helen Cross, Christos Proukakis, David A. Priestman, David C. A. Neville, Gabriele Reinkensmeier, Heng Wang, Max Wiznitzer, Kay Gurtz, Argyro Verganelaki, Anna Pryde, Michael A. Patton, Raymond A. Dwek, Terry D. Butters, Frances M. Platt, Andrew H. Crosby - Nature Genetics 2004 被引用: 385