Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy
PIGS 基因突变（编码 GPI 转酰胺酶）可导致一系列神经系统综合征，包括胎儿运动不能和癫痫性脑病
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2018.08.014
Thi Tuyet Mai Nguyen, Yoshiko Murakami, Kristen M Wigby, Nissan V Baratang, Justine Rousseau, Anik St-Denis, Jill A Rosenfeld, Stephanie C Laniewski, Julie Jones, Alejandro D Iglesias, Marilyn C Jones, Diane Masser-Frye, Angela E Scheuerle, Denise L Perry, Ryan J Taft, Françoise Le Deist, Miles Thom
