机译:猪中的突变,编码GPI羟胺酶,导致从胎儿疾病到癫痫脑病的神经系统综合征
Centre Hospitalier Universitaire Sainte Justine Research Center University of Montreal;
Research Institute for Microbial Diseases Osaka University;
Department of Pediatrics University of California San Diego;
Centre Hospitalier Universitaire Sainte Justine Research Center University of Montreal;
Centre Hospitalier Universitaire Sainte Justine Research Center University of Montreal;
Centre Hospitalier Universitaire Sainte Justine Research Center University of Montreal;
Department of Molecular &
Human Genetics Baylor College of Medicine;
University of Rochester Medical Center;
Greenwood Genetic Center;
NewYork-Presbyterian Morgan Stanley Children’s Hospital;
Department of Pediatrics University of California San Diego;
Rady Children’s Hospital-San Diego;
University of Texas Southwestern Medical Center;
Illumina Inc;
Illumina Inc;
Centre Hospitalier Universitaire Sainte Justine Research Center University of Montreal;
Department of Pediatrics University of California San Diego;
Research Institute for Microbial Diseases Osaka University;
Centre Hospitalier Universitaire Sainte Justine Research Center University of Montreal;
PIGS; glycosylphosphatidylinositol; epilepsy; seizures; inherited GPI deficiency; glycosylphosphatidylinositol biosynthesis defect;
机译:猪中的突变,编码GPI羟胺酶,导致从胎儿疾病到癫痫脑病的神经系统综合征
机译:编码I类基本螺旋-环-螺旋转录因子的TCF4突变导致Pitt-Hopkins综合征,这是一种严重的癫痫性脑病,伴有自主神经功能障碍
机译:人PIG-U和酵母Cdc91p是GPI转酰胺酶的第五个亚基,可将GPI锚连接到蛋白质上
机译:使用近距离摄影测量法诊断胎儿酒精综合症的新型专家系统
机译:编码GPI转酰胺酶的PIGS突变导致从胎儿运动障碍到癫痫性脑病的神经系统综合症
机译:猪的突变,编码GPI羟胺酶,导致神经综合征从胎儿疾病到癫痫患者的神经综合症