The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset
核因子κB激活因子基因PLEKHG5发生突变,导致一种常染色体隐性遗传的下运动神经元疾病,该疾病通常在儿童期发病。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1086/518900
Maystadt, Isabelle; Rezsöhazy, René; Barkats, Martine; Duque, Sandra; Vannuffel, Pascal; Remacle, Sophie; Lambert, Barbara; Najimi, Mustapha; Sokal, Etienne; Munnich, Arnold; Viollet, Louis; Verellen-Dumoulin, Christine