Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1
与进行性肌阵挛性癫痫相关的脊髓性肌萎缩是由 ASAH1 基因突变引起的
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2012.05.001
Jie Zhou, Marcel Tawk, Francesco Danilo Tiziano, Julien Veillet, Monica Bayes, Flora Nolent, Virginie Garcia, Serenella Servidei, Enrico Bertini, Francesc Castro-Giner, Yavuz Renda, Stéphane Carpentier, Nathalie Andrieu-Abadie, Ivo Gut, Thierry Levade, Haluk Topaloglu, Judith Melki